Phenotypic Mutations

109 mutations affecting 93 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 109] per page Full List
 
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1 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158956645 Autosomal Dominant (1;4) 2019-01-18
Anne Murray
 Body Weight (BP Female) - decreased
2 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
3 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
4 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
5 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
6 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
7 UTSW Hcfc2 0.220 10 82696160-82742428 bp (+) 82738408 Unknown (2;0) 2019-01-07
Anne Murray
 TLR signaling defect: TNF production by macrophages
8 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
9 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
10 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
11 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
12 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
13 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
14 UTSW
has photo
Dsg4 0.608 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 2018-11-29
Anne Murray
 skin/coat/nails
15 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
16 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
17 UTSW Cd79a 0.126 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
18 UTSW Ikzf1 0.833 11 11685003-11772926 bp (+) 11769448 Autosomal Dominant (17;122) 2018-10-25
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 NK cell response - decreased
 NK killing - decreased
 T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
19 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (2;8) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - decreased
20 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95)
 Autosomal Semidominant (2;8)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 IgA response to 2nd OVA/Alum Challenge (day 7) - 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 - increased
21 UTSW Myo1d 0.270 11 80482126-80780025 bp (-) 80674708 Autosomal Recessive (1;5) 2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
22 UTSW Myo1d 0.270 11 80482126-80780025 bp (-) 80557521 Autosomal Recessive (2;9) 2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
23 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138137493 Unknown 2018-10-05
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
24 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 2018-10-04
External Program
 DSS: sensitive day 7
25 UTSW Apbb2 0.000 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) 2018-10-04
External Program
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
26 UTSW Gamt 0.372 10 80258151-80261012 bp (-) 80260724 Autosomal Recessive (3;21) 2018-09-18
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
27 UTSW Dnajc3 0.229 14 118937976-118981697 bp (+) 118972387 Autosomal Recessive (6;27) 2018-09-14
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD44+ CD8 T cells - increased
28 UTSW
has photo
Edar 0.427 10 58600789-58675654 bp (-) 58603179 Autosomal Recessive (1;8)
 Autosomal Semidominant (2;11)
2018-09-12
Anne Murray
 Body Weight (BP Female) - decreased
 Body Weight (Female) - decreased
 pigmentation
 skin/coat/nails
29 UTSW
has photo
Slc45a2 0.154 15 11000721-11029233 bp (+) 11000855 Autosomal Recessive (1;16) 2018-09-11
Anne Murray
 pigmentation
 skin/coat/nails
30 UTSW Stat2 0.268 10 128270559-128292849 bp (+) 128281065 Autosomal Recessive (2;11) 2018-09-07
Anne Murray
 FACS CD44+ CD8 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
31 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13696761 Autosomal Recessive (1;3) 2018-08-02
Anne Murray
 pigmentation
 skin/coat/nails
32 UTSW Lyst 0.466 13 13590397-13778803 bp (+) 13683224 Unknown (1;0) 2018-08-02
Diantha La Vine
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
33 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (5;26) 2018-08-02
Diantha La Vine
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS pDCs - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 MCMV susceptibility
 pigmentation
 skin/coat/nails
34 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
35 UTSW Lyst 0.466 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
36 UTSW Tg 0.182 15 66670753-66850721 bp (+) 66696520 Autosomal Recessive (13;85) 2018-08-01
Anne Murray
 Body Weight (DSS) - decreased
37 UTSW Dicer1 1.000 12 104687742-104751952 bp (-) 104705128 Autosomal Recessive (20;143)
 Autosomal Semidominant (1;4)
2018-07-27
Anne Murray
 Blood Pressure: HR Day 3 - decreased
 Body Weight (BP Female) - increased
 Body Weight (BP) - increased
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1 cells - 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 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+ B cells - 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
38 UTSW Mc4r 0.062 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
 Autosomal Semidominant (5;26)
2018-07-25
Diantha La Vine
 30 Min. Insulin - increased
 Body Weight - increased
 Fasting Insulin - increased
 growth/size
 Total Cholesterol - increased
39 UTSW
has photo
Mc4r 0.062 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (3;23)
 Autosomal Semidominant (4;24)
2018-07-25
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 growth/size
 MTT Value of PECs - decreased
 T-dependent humoral response defect- increased antibody response to rSFV
40 UTSW Nfkb1 0.622 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
 Autosomal Recessive (4;54)

 Autosomal Semidominant (5;29)
2018-07-20
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 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 - decreased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
41 UTSW Ebf1 0.929 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;6)
2018-07-20
Diantha La Vine
 FACS B1 cells - decreased
 FACS T cells - increased
42 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (1;16)
 Autosomal Semidominant (1;7)
2018-07-18
Anne Murray
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
43 UTSW Pnp 0.144 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (15;83)
 Autosomal Semidominant (2;8)
2018-07-18
Anne Murray
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central 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 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
44 UTSW Grid2 0.000 6 63255876-64704323 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
 behavior/neurological
45 UTSW
has video
Myo6 0.646 9 80165031-80311729 bp (+) 80246451 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
46 UTSW
has video
Grid2 0.000 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
 MCMV susceptibility
 nervous system
47 UTSW Slc24a4 0.000 12 102128733-102267091 bp (+) 102264944 Autosomal Recessive (2;8) 2018-04-26
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
48 UTSW Dst 0.420 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) 2018-04-25
Anne Murray
 behavior/neurological
 growth/size
49 UTSW
has video
Pcdh15 0.300 10 73099342-74649737 bp (+) 74626844 Autosomal Recessive (1;4) 2018-04-25
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
50 UTSW
has photo
Ksr2 0.258 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
 Autosomal Recessive (4;18)
2018-04-25
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
 growth/size
 impaired response to dsDNA- type I IFN production by macrophages
51 UTSW Rab38 0.151 7 88430273-88491572 bp (+) 88450541 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;5)
2018-04-25
Anne Murray
 dsDNA induced type I IFN production - increased
 impaired response to dsDNA- type I IFN production by macrophages
 pigmentation
 skin/coat/nails
52 UTSW
has photo
Oca2 0.236 7 56239760-56536518 bp (+) 56535968 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
 pigmentation
 skin/coat/nails
53 UTSW Agtpbp1 0.614 13 59445742-59585227 bp (-) 59474550 Autosomal Recessive (7;19) 2018-04-20
Anne Murray
 Body Weight (DSS Male) - decreased
54 UTSW Malt1 0.167 18 65430962-65478823 bp (+) 65475260 Autosomal Recessive (5;22)
 Autosomal Semidominant (1;6)
2018-04-18
Diantha La Vine
 post-MCMV FACS B1b cells - increased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - 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
55 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101768063 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
56 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101764872 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
57 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (8;111) 2018-04-06
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS macrophages - increased
 growth/size
58 UTSW Ltbr 0.117 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (3;20)
 Autosomal Semidominant (1;5)
2018-04-02
Diantha La Vine
 FACS NK T cells - increased
 fasting hyperglycemia (female)
 growth/size
 NK cell response - decreased
 NK killing - decreased
59 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) 2018-03-29
Diantha La Vine
 immune system
 MCMV susceptibility
 NK cell response - decreased
60 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) 2018-03-29
Diantha La Vine
 immune system
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 NK cell response - decreased
 response to injected CpG DNA - decreased
 RVFV susceptibility
61 UTSW Neurod1 0.736 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (4;17) 2018-02-02
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
62 UTSW Oca2 0.236 7 56239760-56536518 bp (+) 56414431 Unknown 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
63 UTSW Inpp5d 0.914 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 growth/size
 hematopoietic system
 homeostasis/metabolism
 immune system
 life span-post-weaning/aging
 respiratory system
64 UTSW Slfn2 0.035 11 83065112-83070678 bp (+) 83069600 Unknown (2;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 FACS CD8+ T cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 MCMV susceptibility
65 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57402841 Unknown 2017-12-19
Anne Murray
 FACS macrophages - decreased
66 UTSW Cd36 0.165 5 17781690-17888801 bp (-) 17813088 Autosomal Recessive (1;5) 2017-10-05
External Program
67 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (3;20) 2017-09-15
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
68 UTSW Muc2 0.073 7 141690340-141754693 bp (+) 141753439 Unknown 2017-09-13
Diantha La Vine
 DSS: sensitive day 7
69 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (3;10) 2017-09-08
Diantha La Vine
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
70 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (25;386) 2017-08-09
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1 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+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 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 IgD+ B cell percentage - increased
 FACS IgM+ B cells - 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
71 UTSW Themis 0.153 10 28668360-28883818 bp (+) 28668727 Unknown 2017-06-20
Katherine Timer
72 UTSW Itga11 0.151 9 62677826-62783982 bp (+) 62732109 Autosomal Recessive (2;14) 2017-05-12
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
73 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582449 Autosomal Semidominant (1;6) 2017-05-12
Anne Murray
 post-MCMV FACS B1b cells in B1 cells - increased
74 UTSW Cd8a 0.040 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
 Autosomal Recessive (6;45)

 Autosomal Semidominant (6;64)
2017-05-12
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 MCMV susceptibility
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
75 UTSW Col1a1 1.000 11 94936224-94953042 bp (+) 94947184 Unknown 2017-05-02
Katherine Timer
 behavior/neurological
 skeleton phenotype
76 UTSW Traf3 1.000 12 111166370-111267153 bp (+) 111261576 Autosomal Dominant (1;10)
 Autosomal Semidominant (1;4)
2017-04-17
Katherine Timer
 FACS B cells - decreased
 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
77 UTSW
has photo
Rxra 1.000 2 27676440-27762957 bp (+) 27752334 Unknown 2017-04-11
Katherine Timer
 hematopoietic system
 immune system
 pigmentation
 skeleton phenotype
 skin/coat/nails
 vision/eye
78 UTSW Rhbdf2 0.000 11 116598165-116627019 bp (-) 116602260 Unknown (1;0) 2017-04-06
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
79 UTSW
has photo
Crygb 0.000 1 65080219-65082288 bp (-) 65082157 Unknown 2017-03-30
Katherine Timer
 vision/eye
80 UTSW Tlr6 0.192 5 64952031-64960097 bp (-) 6540276 Unknown (1;0) 2017-03-28
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
81 UTSW Tirap 0.239 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) 2017-03-23
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
82 UTSW Nlrp3 0.050 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (4;19) 2017-03-02
Katherine Timer
 FACS B1a cells in B1 cells - decreased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 T-dependent humoral response defect- increased antibody response to rSFV
83 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) 2016-12-09
Katherine Timer
 FACS B220 MFI - decreased
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
84 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
 Autosomal Semidominant (2;13)
2016-12-09
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
85 UTSW Yipf6 X 98936316-98949017 bp (+) 98940782 Unknown (1;0) 2016-12-09
Anne Murray
 DSS: sensitive day 7
 immune system
86 UTSW Lep 0.000 6 29060220-29073877 bp (+) 29068972 Autosomal Recessive (5;35) 2016-12-08
Anne Murray
 adipose tissue
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 growth/size
87 UTSW
has photo
Tmprss6 0.138 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
 Autosomal Semidominant (1;4)
2016-12-07
Anne Murray
 FACS T cells - decreased
 skin/coat/nails
88 UTSW
has photo
Hps5 0.253 7 46760466-46796064 bp (-) 46784145 Unknown 2016-11-01
Katherine Timer
 pigmentation
 skin/coat/nails
89 UTSW Hps6 0.000 19 46003478-46006173 bp (+) 46003836 Unknown 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 pigmentation
 skin/coat/nails
90 UTSW Tap2 0.101 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) 2016-09-28
Katherine Timer
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - 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
91 UTSW Immp2l 0.000 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive (4;25) 2016-09-27
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 growth/size
92 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (5;26)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (6;32)
2016-09-16
Katherine Timer
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS neutrophils - decreased
 MCMV susceptibility
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
93 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (1;10) 2016-09-16
Katherine Timer
 behavior/neurological
 hearing/vestibular/ear
94 UTSW Tyrp1 0.230 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 2016-09-15
Katherine Timer
 pigmentation
 skin/coat/nails
95 UTSW
has photo
Pkd2 1.000 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) 2016-05-16
Anne Murray
 renal/urinary system
96 UTSW Malt1 0.167 18 65430962-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 2016-05-13
Anne Murray
 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
97 UTSW Pax1 0.449 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
 Autosomal Semidominant (3;12)
2016-05-13
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (Female) - decreased
 limbs/digits/tail phenotype
98 UTSW Jak3 0.400 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (1;9) 2016-05-13
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
99 UTSW Zeb1 0.774 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (2;9) 2016-05-13
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
100 UTSW
has photo
Dtnbp1 0.000 13 44922075-45002147 bp (-) 44941438 Unknown (2;0) 2016-05-13
Stephen Lyon
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
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