Phenotypic Mutations

120 mutations affecting 92 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 120] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
~
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW Klhl6 0.082 Parula 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
2 UTSW Alms1 0.000 earthquake 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (14;123) 2018-12-18
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
3 UTSW Tlr4 0.000 lps3 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
4 UTSW Tcf12 1.000 Poorly2 9 71842688-72111871 bp (-) 71858929 Autosomal Semidominant (5;36) 2018-12-05
Anne Murray
 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
5 UTSW Dock2 0.000 wassup 11 34226815-34783892 bp (-) 34503413 Autosomal Dominant (1;5)
 Autosomal Recessive (6;56)

 Autosomal Semidominant (4;54)
2018-11-30
Anne Murray
 FACS B cells - decreased
 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
6 UTSW Dock2 0.000 frizz 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
7 UTSW Dock2 0.000 frazz 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
8 UTSW Dock2 0.000 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (2;10)
 Autosomal Semidominant (3;18)
2018-11-29
Diantha La Vine
 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 CD8+ T cells in CD3+ T cells - increased
9 UTSW Hcn1 0.092 Thump 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
10 UTSW Vav1 0.256 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 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
11 UTSW Blnk 0.101 busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) 2018-10-25
Diantha La Vine
 FACS B 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
12 UTSW Gck 1.000 Tootsie 11 5900820-5950081 bp (-) 5909150 Autosomal Dominant (1;5) 2018-10-25
Anne Murray
13 UTSW Mdm4 1.000 Sun_island 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (7;60) 2018-10-25
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
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
14 UTSW Ebf1 0.929 Crater_lake 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (8;57) 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
15 UTSW Irs1 0.401 runt2 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (6;32) 2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
16 UTSW Apbb2 0.000 Dionysis 5 66298703-66618784 bp (-) 66452250 Autosomal Semidominant (1;4) 2018-10-19
Diantha La Vine
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
17 UTSW Cr2 0.174 Pillar 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
18 UTSW Rasgrp1 0.285 naejangsan 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (21;491)
 Autosomal Semidominant (1;4)
2018-10-12
Diantha La Vine
 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
19 UTSW Myo1d 0.270 whisper2 11 80482126-80780025 bp (-) 80666578 Autosomal Recessive (2;11) 2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
20 UTSW
has video
Cdh23 0.000 hersey 10 60302748-60696490 bp (-) 60308036 Autosomal Recessive (6;34) 2018-10-11
Anne Murray
 behavior/neurological
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 FACS CD44+ T cells - increased
21 UTSW Ptprc 0.256 Guotie3 1 138062861-138175708 bp (-) 138078451 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;19)
2018-10-10
Anne Murray
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
22 APN Ptprc 0.256 lochy 1 138062861-138175708 bp (-) 138083790 Unknown 2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
23 UTSW Ptprc 0.256 Half_measure 1 138062861-138175708 bp (-) 138071249 Autosomal Semidominant (3;13) 2018-10-05
Diantha La Vine
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
24 UTSW Adamts20 0.239 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
25 UTSW
has photo
Adamts20 0.239 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
26 UTSW
has photo
Adamts20 0.239 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
27 UTSW
has video
Galc 0.000 teeter 12 98202294-98259459 bp (-) 98259162 Autosomal Recessive (5;23)
 Autosomal Semidominant (2;12)
2018-10-05
Anne Murray
 behavior/neurological
 Blood Pressure: DBP Day 1 - increased
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Day 1 - increased
 Blood Pressure: MBP Day 3 - increased
 growth/size
28 UTSW Ppp3cb 0.000 Redwood 14 20499364-20546573 bp (-) 20509440 Autosomal Semidominant (2;11) 2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 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 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
29 UTSW Ppp3cb 0.000 everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
 Autosomal Semidominant (3;15)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 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 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
30 UTSW Diaph1 0.000 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 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 T cells - decreased
 MCMV susceptibility
31 UTSW Stk4 0.000 stryker 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (24;227)
 Autosomal Semidominant (1;8)
2018-09-21
Anne Murray
 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
32 UTSW Gys2 0.494 embittered 6 142422613-142473109 bp (-) 142454484 Autosomal Recessive (1;4) 2018-08-29
Anne Murray
 fasting hypoglycemia
33 UTSW Ern2 0.105 ernie 7 122169893-122186207 bp (-) 122171661 Autosomal Recessive (2;19) 2018-08-21
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
34 UTSW
has photo
Slc45a2 0.154 Draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
35 UTSW Siglecg 0.087 Shenandoah 7 43408204-43418358 bp (+) 43408802 Autosomal Semidominant (1;13) 2018-07-30
Anne Murray
 FACS B1 cells - increased
36 UTSW Mc4r 0.062 Cetacean 18 66857715-66860472 bp (-) 66859180 Autosomal Semidominant (2;16) 2018-07-25
Anne Murray
 Body Weight - increased
 Body Weight (Male) - increased
37 UTSW Mc4r 0.062 chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (2;12) 2018-07-25
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 growth/size
38 UTSW Nfkb1 0.622 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
 Autosomal Recessive (1;3)

 Autosomal Semidominant (2;8)
2018-07-20
Diantha La Vine
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 T-dependent humoral response defect- decreased antibody response to rSFV
39 UTSW Nfkb1 0.622 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
 Autosomal Semidominant (4;22)
2018-07-20
Diantha La Vine
 DSS: sensitive day 10
 FACS central memory CD8 T cells in CD8 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
40 UTSW Tbk1 1.000 pioneer 10 121546455-121586787 bp (-) 121578690 Unknown 2018-06-13
Anne Murray
 impaired response to dsDNA- type I IFN production by macrophages
 lethality-embryonic/perinatal
41 UTSW
has video
Atcay 0.244 wobbley 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
 behavior/neurological
42 UTSW Grm7 0.000 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) 2018-05-22
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
43 UTSW Agtpbp1 0.614 drunk 13 59445742-59585227 bp (-) 59512323 Unknown 2018-05-22
Anne Murray
 behavior/neurological
44 UTSW Nek7 1.000 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
45 UTSW
has video
Pcdh15 0.300 spaz 10 73099342-74649737 bp (+) 74210425 Unknown 2018-04-25
Anne Murray
46 UTSW
has photo
Ednrb 0.329 pongo 14 103814625-103844402 bp (-) 103823274 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
 digestive/alimentary
 growth/size
 life span-post-weaning/aging
 pigmentation
 skin/coat/nails
47 UTSW
has video
Scn8a 0.811 dan 15 100869858-101045938 bp (+) 101035624 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
 behavior/neurological
48 UTSW Card11 0.000 king 5 140872990-141000582 bp (-) 140891080 Unknown (1;0) 2018-04-18
Diantha La Vine
 CTL killing - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 NK cell response - decreased
 skin/coat/nails
49 UTSW Kit 0.852 pretty2 5 75574916-75656722 bp (+) 75649550 Unknown 2018-04-16
Diantha La Vine
 hematopoietic system
 immune system
 pigmentation
 reproductive system
 skin/coat/nails
50 UTSW Plcg2 0.000 Poseidon2 8 117498291-117635142 bp (+) 117577874 Autosomal Semidominant (2;13) 2018-04-11
Anne Murray
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD11c+ DCs - 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 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
51 UTSW
has photo
Ptpn6 0.477 spin 6 124720707-124738714 bp (-) 124728559 Unknown 2018-04-06
Diantha La Vine
 hematopoietic system
 immune system
52 UTSW Bcl3 0.000 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 2018-04-04
Anne Murray
 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
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
53 UTSW Stat1 0.000 roccoco 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive (9;101) 2018-03-29
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 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 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
54 UTSW Prkdc 0.976 Screamer10 16 15637866-15842235 bp (+) 15768025 Autosomal Semidominant (1;4) 2018-03-28
Diantha La Vine
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
55 UTSW Prkdc 0.976 Screamer9 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant (1;4) 2018-03-28
Diantha La Vine
 FACS CD8+ T cells in CD3+ T cells - decreased
56 UTSW Prkdc 0.976 screamer5 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive (7;39) 2018-03-28
Diantha La Vine
 post-MCMV FACS CD44+ CD4 MFI - increased
 post-MCMV FACS CD44+ CD4 T cells - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ CD8 T cells - increased
 post-MCMV FACS CD44+ T cells - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
57 UTSW
has photo
Ap3b1 0.470 bella 13 94358960-94566317 bp (+) 94528257 Unknown 2018-02-22
Anne Murray
58 UTSW Rims4 0.074 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (2;10) 2018-02-06
Anne Murray
 Body Weight - decreased
 growth/size
59 UTSW Tlr3 0.163 Ultraman 8 45395665-45411080 bp (-) 45402981 Unknown (1;0)
 Autosomal Semidominant (2;27)
2018-01-31
Anne Murray
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: hyposensitivity to poly I:C + IFNg
 TLR signaling defect: TNF production by macrophages
60 UTSW
has photo
Oca2 0.236 draco1 7 56239760-56536518 bp (+) 56423352 Autosomal Recessive (1;4) 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
61 UTSW
has photo
Oca2 0.236 narwhal 7 56239760-56536518 bp (+) 56295498 Autosomal Recessive (2;9) 2018-01-12
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 pigmentation
 skin/coat/nails
62 UTSW Wnt7a 0.608 gimpy 6 91363981-91411363 bp (-) 91365884 Unknown 2017-09-15
Anne Murray
 limbs/digits/tail phenotype
 reproductive system
63 UTSW Pappa2 0.000 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) 2017-09-15
Anne Murray
 Body Weight - decreased
 Body Weight (BP) - decreased
64 UTSW Map3k8 0.000 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) 2017-09-15
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
65 UTSW Trp53bp1 0.000 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
 Autosomal Recessive (2;8)
2017-09-15
Anne Murray
 30 Min. Insulin (Male) - decreased
 FACS CD8+ T cells - decreased
 FACS IgD MFI - decreased
66 UTSW Trp53bp1 0.000 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;4)
2017-09-15
Anne Murray
 FACS B2 cells - increased
 FACS IgD MFI - decreased
67 UTSW Pappa2 0.000 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
 Autosomal Dominant (2;8)

 Autosomal Semidominant (1;5)
2017-09-12
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 growth/size
68 APN Tap1 0.000 rose 17 34187553-34197225 bp (+) 34194940 Unknown 2017-09-11
Diantha La Vine
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
69 UTSW Map3k8 0.000 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) 2017-09-11
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
70 APN Card11 0.000 unmodulated 5 140872990-141000582 bp (-) 140897997 Unknown 2017-09-08
Diantha La Vine
 CD8 response - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 NK cell response - decreased
 skin/coat/nails
71 UTSW Zap70 0.296 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438) 2017-08-29
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 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+ 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
72 UTSW Itgb2 0.372 Joker 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) 2017-08-13
Diantha La Vine
 hematopoietic system
 immune system
 NK cell response - decreased
73 UTSW Zap70 0.296 trebia 1 36761798-36782818 bp (+) 36781025 Unknown 2017-08-08
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic competition - disadvantage
 immune system
74 APN Zap70 0.296 murdock 1 36761798-36782818 bp (+) 36779704 Unknown 2017-08-08
Diantha La Vine
 CD8 response - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
75 UTSW Myd88 0.000 Myd88rev1 9 119335934-119341411 bp (-) 119337394 Unknown 2017-06-14
Katherine Timer
 normal phenotype
76 UTSW Myd88 0.000 pococurante 9 119335934-119341411 bp (-) 119338114 Unknown (4;0) 2017-06-14
Katherine Timer
 DSS: sensitive day 7
 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
77 UTSW Gck 1.000 Grahamcracker 11 5900820-5950081 bp (-) 5902165 Autosomal Semidominant (1;4) 2017-06-13
Katherine Timer
 30 min GTT hyperglycemic
78 UTSW
has video
Slc26a4 0.000 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (1;2) 2017-06-01
Emre Turer
 behavior/neurological
 hearing/vestibular/ear
79 UTSW
has photo
Hps3 0.182 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) 2017-05-31
Katherine Timer
 pigmentation
 skin/coat/nails
80 UTSW
has photo
Gsdma3 0.232 Michelin 11 98626360-98638226 bp (+) 98637573 Unknown 2017-04-11
Katherine Timer
 skin/coat/nails
81 UTSW Tlr9 0.111 Meager 9 106222598-106226883 bp (+) 106224139 Unknown (1;0) 2017-04-11
Katherine Timer
 immune system
 TLR signaling defect: type I IFN production by pDC
82 UTSW Rhbdf2 0.000 Lostnf2 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) 2017-04-06
Katherine Timer
 125-03 Response - decreased
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
83 UTSW Rhbdf2 0.000 Lostnf 11 116598165-116627019 bp (-) 116600161 Autosomal Semidominant (4;16) 2017-04-06
Katherine Timer
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
84 APN Tnfaip3 0.000 lasvegas 10 19000910-19015657 bp (-) 19010758 Unknown 2017-04-06
Katherine Timer
 immune system
85 UTSW Cd36 0.165 oblivious 5 17781690-17888801 bp (-) 17874966 Unknown (1;0) 2017-03-28
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
 vision/eye
86 UTSW Irf4 0.369 honey 13 30749226-30766976 bp (+) 30751751 Unknown (2;0) 2017-03-28
Katherine Timer
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
87 UTSW Tlr6 0.192 m2sd2 5 64952031-64960097 bp (-) 6540076 Unknown (1;0) 2017-03-28
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
88 UTSW Tlr4 0.000 Guardiola 4 66827584-66930284 bp (+) 66839303 Unknown (1;0)
 Autosomal Recessive (1;6)

 Autosomal Semidominant (3;19)
2016-12-09
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 Nlrc4 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
89 UTSW Tlr4 0.000 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (2;23) 2016-12-09
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
90 UTSW Tlr4 0.000 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1;4) 2016-12-08
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
91 UTSW
has photo
Adam17 0.699 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown 2016-11-10
Anne Murray
 skin/coat/nails
 vision/eye
92 UTSW Trpv5 0.373 gingame 6 41652173-41680769 bp (-) 41670961 Unknown (1;0) 2016-11-10
Anne Murray
 DSS: sensitive day 7
 immune system
93 UTSW
has photo
Hps3 0.182 pam_gray 3 19995945-20035315 bp (-) 20017173 Unknown (1;0) 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 pigmentation
 skin/coat/nails
94 UTSW Cd8a 0.040 wenzhou 6 71373427-71379173 bp (+) 71373872 Autosomal Recessive (5;44) 2016-09-22
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
95 UTSW
has photo
Tmprss6 0.138 cubone 15 78439667-78468634 bp (-) 78446657 Autosomal Recessive (1;8) 2016-08-17
Anne Murray
 growth/size
 skin/coat/nails
96 UTSW Jak3 0.400 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
2016-08-12
Bruce Beutler
 Body Weight (DSS Female) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 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 CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - 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 NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 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
97 UTSW Slfn2 0.035 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) 2016-06-03
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
98 UTSW Sell 0.000 dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) 2016-05-17
Anne Murray
 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
99 UTSW Med30 zeitgeist 15 52712408-52730564 bp (+) 52712639 Unknown (1;0) 2016-05-13
Stephen Lyon
 cardiovascular system
 FACS NK cells - decreased
 hematopoietic system
 life span-post-weaning/aging
100 UTSW Ruvbl2 1.000 Worker 7 45421760-45438096 bp (-) 45431318 Unknown (2;0) 2016-05-13
Stephen Lyon
 FACS CD4+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
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