Phenotypic Mutations

713 mutations affecting 342 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 713] per page Full List
 
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1 UTSW Siglecg 0.087 7 43408204-43418358 bp (+) 43409057 Autosomal Semidominant (1;5) 2019-01-18
Anne Murray
 FACS B1 cells - increased
2 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41376146 Autosomal Dominant (1;12) 2019-01-18
Anne Murray
 FACS B1 cells - decreased
3 UTSW Atp2b2 0.626 6 113743831-114042613 bp (-) 113773388 Autosomal Recessive (1;4) 2019-01-18
Anne Murray
 Body Weight (DSS Male) - decreased
4 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158956645 Autosomal Dominant (1;4) 2019-01-18
Anne Murray
 Body Weight (BP Female) - decreased
5 UTSW Dsg2 0.144 18 20558074-20604521 bp (+) 20580651 Autosomal Recessive (6;41) 2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD4+ T cells - decreased
 FACS T cells - decreased
6 UTSW Clcnka 0.000 4 141384610-141398724 bp (-) 141395158 Autosomal Recessive (2;20) 2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
7 UTSW Col3a1 0.842 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7)
 Autosomal Semidominant (3;12)
2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
8 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (7;43)
 Autosomal Semidominant (6;29)
2019-01-18
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
9 UTSW Siglecg 0.087 7 43408204-43418358 bp (+) 43412017 Autosomal Recessive (1;13)
 Autosomal Semidominant (3;12)
2019-01-18
Diantha La Vine
 FACS B1 cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
10 UTSW Siglecg 0.087 7 43408204-43418358 bp (+) 43411386 Autosomal Recessive (2;14)
 Autosomal Semidominant (4;30)
2019-01-18
Diantha La Vine
 30 Min. Insulin (Female) - increased
 FACS B1 cells - increased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS IgM MFI - decreased
11 UTSW Siglecg 0.087 7 43408204-43418358 bp (+) 43408802 Autosomal Semidominant (1;13) 2019-01-18
Diantha La Vine
 FACS B1 cells - increased
12 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) 2019-01-17
Diantha La Vine
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
13 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41356683 Unknown 2019-01-17
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
14 UTSW Atp2b2 0.626 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (4;14) 2019-01-17
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 Body Weight (Female) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 hearing/vestibular/ear
15 UTSW Bcl10 1.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (17;163)

 Autosomal Semidominant (2;11)
2019-01-17
Anne Murray
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 NK cell response - decreased
 NK killing - decreased
 OVA-specific IgE - increased
 OVA-specific IgE after 2nd OVA/Alum - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
 total IgE level - increased
16 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) 2019-01-15
Diantha La Vine
 Body Weight - decreased
 Body Weight (BP) - decreased
17 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (2;11) 2019-01-15
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
18 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
 Autosomal Dominant (1;4)

 Autosomal Recessive (1;1)


 Autosomal Semidominant (1;5)
2019-01-15
Diantha La Vine
 Body Weight (Female) - decreased
 FACS B1b cells - decreased
 growth/size
19 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (26;515)
 Autosomal Semidominant (2;8)
2019-01-10
Anne Murray
 FACS B:T cells - increased
 FACS B1b cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
20 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015174 Unknown 2019-01-09
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK T cells - increased
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: hypersensitivity to R848
21 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
 Autosomal Semidominant (3;16)
2019-01-09
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK T cells - increased
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: hypersensitivity to R848
22 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 72015636 Autosomal Semidominant (6;31) 2019-01-09
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
23 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 71858929 Autosomal Dominant (1;6)
 Autosomal Semidominant (5;36)
2019-01-09
Diantha La Vine
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
24 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 71944016 Autosomal Dominant (1;5) 2019-01-09
Diantha La Vine
 FACS central memory CD8 T cells in CD8 T cells - increased
25 UTSW Fas 0.091 19 34290659-34327770 bp (+) 34316569 Autosomal Recessive (3;19) 2019-01-08
Anne Murray
 FACS B220 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
26 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (1;6)
 Autosomal Recessive (2;11)
2019-01-07
Anne Murray
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
27 UTSW Hcfc2 0.220 10 82696160-82742428 bp (+) 82738408 Unknown (2;0) 2019-01-07
Anne Murray
 TLR signaling defect: TNF production by macrophages
28 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (7;38)
 Autosomal Semidominant (1;6)
2019-01-07
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
 total IgE level - increased
29 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778028 Autosomal Recessive (4;23)
 Autosomal Semidominant (1;6)
2019-01-07
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: TNF production by macrophages
30 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60779870 Autosomal Recessive (5;24) 2019-01-07
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hypersensitivity to CpG + IFNg
31 UTSW Fas 0.091 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (7;38) 2019-01-07
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 post-MCMV FACS B1a cells - increased
 post-MCMV FACS B1b cells - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
32 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (4;15)
2019-01-05
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
33 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
 Autosomal Semidominant (4;27)
2019-01-05
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
34 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (46;548)
 Autosomal Semidominant (3;12)
2018-12-20
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: SBP Average - decreased
 Blood Pressure: SBP Day 1 - decreased
 Blood Pressure: SBP Day 3 - decreased
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Bone: Liver Fat - increased
 Bone: Liver Fat (female) - increased
 Bone: Liver Fat (male) - increased
 Bone: Liver Fat (normalized) - decreased
 Bone: Liver Fat (normalized, female) - decreased
 Bone: Liver Fat (normalized, male) - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 growth/size
35 UTSW Hcn2 0.542 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (13;80) 2018-12-20
Anne Murray
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS T cells - increased
 Motor: Rotarod Weight - decreased
36 UTSW Il12a 0.000 3 68690644-68698547 bp (+) 68697987 Autosomal Recessive (1;5) 2018-12-20
Anne Murray
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
37 UTSW Nedd9 0.000 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) 2018-12-19
Diantha La Vine
 FACS B1a cells in B1 cells - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
38 UTSW Prkce 0.000 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 2018-12-19
Anne Murray
 FACS NK cells - decreased
39 UTSW Adra2a 0.000 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
 Autosomal Semidominant (2;7)
2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
 30 min GTT hypoglycemic (male)
 30 Min. Insulin (Female) - increased
40 UTSW Adra2a 0.000 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (9;48)
 Autosomal Semidominant (4;19)
2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
 30 min GTT hypoglycemic (male)
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 Body Weight (Female) - decreased
 Fasting Insulin (Male) - increased
41 UTSW Klhl6 0.082 16 19946496-19983037 bp (-) 19957043 Autosomal Semidominant (4;25) 2018-12-18
Anne Murray
 FACS B1a cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
42 UTSW
has video
Wdr81 1.000 11 75440944-75454717 bp (-) 75441812 Autosomal Recessive (2;11) 2018-12-18
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Male) - decreased
43 UTSW Il2rb 0.116 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (49;496) 2018-12-18
Anne Murray
 Blood Pressure: DBP Average - increased
 Blood Pressure: DBP Day 2 - increased
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 2 - increased
 Body Weight (BP Female) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 NK cell response - decreased
 NK killing - decreased
 OVA-specific IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
44 UTSW Fbp1 0.378 13 62864753-62888282 bp (-) 62875261 Autosomal Recessive (5;42) 2018-12-18
Anne Murray
 fasting hypoglycemia
 fasting hypoglycemia (female)
 fasting hypoglycemia (male)
45 UTSW Lig4 1.000 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
 Autosomal Semidominant (2;8)
2018-12-18
Anne Murray
 FACS B cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
46 UTSW Lig4 1.000 8 9969049-9977686 bp (-) 9971585 Autosomal Recessive (3;17) 2018-12-18
Anne Murray
 FACS B cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
47 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (16;132) 2018-12-18
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
48 UTSW Irf1 0.000 11 53770014-53778374 bp (+) 53775936 Autosomal Semidominant (3;18) 2018-12-18
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
49 UTSW Irf1 0.000 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (4;52)
 Autosomal Semidominant (1;8)
2018-12-18
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS NK cells - decreased
50 UTSW Irf1 0.000 11 53770014-53778374 bp (+) 53772891 Unknown (2;0) 2018-12-17
Diantha La Vine
 FACS CD8+ T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 TLR signaling defect: type I IFN production by macrophages
51 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11879496 Autosomal Dominant (1;4)
 Autosomal Recessive (14;60)

 Autosomal Semidominant (3;23)
2018-12-14
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
52 UTSW Tlr9 0.111 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) 2018-12-14
Diantha La Vine
 immune system
 MCMV susceptibility
 response to injected CpG DNA - decreased
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
53 UTSW Tlr7 0.129 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
54 UTSW Tlr6 0.192 5 64952031-64960097 bp (-) 64954583 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
55 UTSW Tlr2 0.000 3 83836272-83841767 bp (-) 83837315 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
56 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66841097 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
57 UTSW Gimap1 0.055 6 48739054-48743795 bp (+) 48743098 Autosomal Recessive (6;58) 2018-12-12
Anne Murray
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
58 UTSW
has photo
Mc4r 0.062 18 66857715-66860472 bp (-) 66859142 Unknown 2018-12-10
Diantha La Vine
 adipose tissue
 growth/size
59 UTSW Klhl6 0.082 16 19946496-19983037 bp (-) 19957139 Autosomal Recessive (4;26) 2018-12-10
Anne Murray
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
60 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;56)
 Autosomal Semidominant (2;9)
2018-12-07
Diantha La Vine
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
61 UTSW
has photo
Alms1 0.000 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (17;123)

 Autosomal Semidominant (3;10)
2018-12-07
Diantha La Vine
 30 min GTT hyperglycemic
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 fasting hyperglycemia
 fasting hyperglycemia (female)
 fasting hyperglycemia (male)
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
 growth/size
 NK cell response - decreased
 NK killing - decreased
62 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (Male) - increased
 growth/size
63 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (1;5) 2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Female) - increased
64 UTSW
has video
Hcn2 0.542 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) 2018-12-07
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
65 UTSW
has video
Cacna1a 0.712 8 84388440-84640246 bp (+) 84588753 Autosomal Dominant (1;4)
 Autosomal Recessive (5;22)
2018-12-06
Anne Murray
 behavior/neurological
 Motor: Rotarod Weight - decreased
66 UTSW Zfp318 0.000 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) 2018-12-06
Anne Murray
 post-MCMV FACS B1b cells - decreased
 post-MCMV FACS B2 cells - increased
 post-MCMV FACS IgD MFI - decreased
67 UTSW
has photo
Sema4c 1.000 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) 2018-12-05
Anne Murray
 pigmentation
 skin/coat/nails
68 UTSW Ebf1 0.929 11 44617317-45008091 bp (+) 44883885 Autosomal Dominant (13;122) 2018-12-04
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - increased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD8+ T cells - increased
 FACS NK cells - decreased
 FACS T cells - increased
69 UTSW Cd3e 0.000 9 44998740-45009627 bp (-) 45001128 Autosomal Recessive (8;58) 2018-11-30
Anne Murray
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
70 UTSW Irf8 0.000 8 120736358-120756694 bp (+) 120753707 Autosomal Recessive (3;23) 2018-11-30
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
71 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34503413 Autosomal Dominant (1;5)
 Autosomal Recessive (5;52)

 Autosomal Semidominant (4;54)
2018-11-30
Anne Murray
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
72 UTSW Cd3e 0.000 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
73 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (3;32) 2018-11-29
Diantha La Vine
 OVA-specific IgE - increased
74 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) 2018-11-29
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
75 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) 2018-11-29
Diantha La Vine
 FACS B cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
76 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (2;10)
2018-11-29
Diantha La Vine
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS NK cells - increased
 total IgE level - increased
77 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) 2018-11-29
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
78 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (1;6)
 Autosomal Semidominant (3;18)
2018-11-29
Diantha La Vine
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
79 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (3;14) 2018-11-29
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
80 UTSW Irf8 0.000 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) 2018-11-29
Diantha La Vine
 cellular phenotype
 FACS CD8+ T cells - decreased
 immune system
 MCMV susceptibility
 response to injected CpG DNA - decreased
81 UTSW
has photo
Dsg4 0.608 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 2018-11-29
Anne Murray
 skin/coat/nails
82 UTSW Ikbkb 1.000 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
 Autosomal Semidominant (5;22)
2018-11-20
Bruce Beutler
 IgG1 response to a Cysteine Protease (Papain) - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T MFI - decreased
 post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hyposensitivity to MALP2
83 UTSW
has video
Psap 1.000 10 60277627-60302597 bp (+) 60300851 Autosomal Dominant (1;1)
 Autosomal Recessive (1;3)
2018-11-16
Anne Murray
 behavior/neurological
 fasting hyperglycemia
84 UTSW Il4ra 0.056 7 125552120-125579474 bp (+) 125567221 Autosomal Dominant (1;2)
 Autosomal Semidominant (1;5)
2018-11-16
Anne Murray
 OVA-specific IgE - decreased
 total IgE level - decreased
85 UTSW Gsdmd 0.000 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 2018-11-16
Anne Murray
 Nlrc4 inflammasome: low response
86 UTSW Hcn1 0.092 13 117602320-117987418 bp (+) 117873905 Autosomal Recessive (1;8)
 Autosomal Semidominant (2;16)
2018-11-16
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
87 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
 Autosomal Semidominant (1;4)
2018-11-15
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
88 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) 2018-11-07
Diantha La Vine
 adenovirus infection of macrophages - increased
 immune system
 influenza proliferation in macrophages - increased
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 RVFV proliferation in macrophages - increased
89 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499537 Unknown (1;0)
 Autosomal Recessive (7;29)
2018-11-06
Diantha La Vine
 dsDNA induced type I IFN production - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 impaired response to dsDNA- type I IFN production by macrophages
90 UTSW Yap1 1.000 9 7931999-8004596 bp (-) 8004284 Autosomal Semidominant (2;10) 2018-11-05
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
91 UTSW Nek8 0.600 11 78166106-78176675 bp (-) 78173059 Autosomal Recessive (25;198) 2018-11-05
Anne Murray
 Blood Pressure: DBP Average - increased
 Blood Pressure: DBP Day 1 - increased
 Blood Pressure: DBP Day 2 - increased
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 1 - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: MBP Day 3 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 1 - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - increased
92 UTSW Rho 0.155 6 115931748-115940036 bp (+) 115935131 Unknown 2018-11-01
Diantha La Vine
 vision/eye
93 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (27;309) 2018-10-29
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
94 UTSW Ebf1 0.929 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (8;69)
 Autosomal Semidominant (1;4)
2018-10-26
Anne Murray
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
95 UTSW Vav1 0.256 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (18;210)
 Autosomal Semidominant (2;23)
2018-10-25
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - decreased
96 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
 Autosomal Recessive (4;21)

 Autosomal Semidominant (7;44)
2018-10-25
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 OVA-specific IgE - increased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
97 UTSW Plcg2 0.000 8 117498291-117635142 bp (+) 117581707 Unknown (1;0) 2018-10-25
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 IgE response to a Cysteine Protease (Papain) - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NLRP3 inflammasome: high response
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hypersensitivity to CpG + IFNg
98 UTSW Prkcd 0.368 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;5)
2018-10-25
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
99 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) 2018-10-25
Diantha La Vine
 immune system
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
100 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3746768 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;6)
2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS neutrophils - increased
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