Phenotypic Mutations

602 mutations affecting 286 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 604] next >> last >| per page Full List Export
 
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1 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
2 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Unknown 2016-05-13
Peter Jurek
embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
3 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Unknown 2017-05-02
Katherine Timer
immune system
limbs/digits/tail phenotype
skeleton phenotype
4 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Unknown (1;0) 2016-05-13
Stephen Lyon
cardiovascular system
FACS NK cells - decreased
hematopoietic system
life span-post-weaning/aging
5 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
6 UTSW Ticam1 Yue 17 56269319-56276786 bp (-) 56271339 Unknown (1;0)
 Autosomal Dominant (3;12)
2016-09-22
Anne Murray
immune system
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
7 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) 2018-03-02
Diantha La Vine
skin/coat/nails
8 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
2017-08-03
Diantha La Vine
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
9 UTSW Malt1 yellowstone 18 65430963-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 2016-05-13
Anne Murray
immune system
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
10 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
11 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown 2017-03-28
Katherine Timer
FACS B cells - decreased
immune system
12 UTSW Ruvbl2 Worker 7 45421852-45438096 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
13 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Unknown 2017-04-11
Katherine Timer
skin/coat/nails
14 UTSW
has photo
Mbtps1 woodrat 8 119508156-119558761 bp (-) 119529030 Unknown (1;0) 2016-11-10
Anne Murray
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
15 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) 2016-05-13
External Program
FACS IgD MFI - decreased
immune system
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS IgD MFI - decreased
16 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
behavior/neurological
17 UTSW Agtpbp1 wobble 13 59449537-59585227 bp (-) 59474550 Autosomal Recessive (9;27) 2018-04-20
Anne Murray
Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
Motor: Rotarod Training 1 - decreased
Motor: Rotarod Training 2 - decreased
Motor: Rotarod Training 3 - decreased
18 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown 2017-09-13
Diantha La Vine
DSS: sensitive day 7
immune system
19 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
20 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Unknown 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
21 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Unknown 2016-05-13 pigmentation
skin/coat/nails
22 UTSW Cd8a wenzhou 6 71373427-71379171 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
immune system
23 UTSW Lepr well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown 2018-04-06
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
24 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown 2017-08-03
Diantha La Vine
FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
25 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
 Autosomal Semidominant (2;8)
2016-05-13
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
limbs/digits/tail phenotype
26 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown 2016-11-10
Anne Murray
skin/coat/nails
vision/eye
27 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) 2017-08-08
Diantha La Vine
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - decreased
FACS T cells - decreased
28 UTSW
has photo
Adamts20 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-03-13
Anne Murray
pigmentation
skin/coat/nails
29 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) 2016-05-13
Anne Murray
FACS NK cells - decreased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
30 UTSW Zap70 wanna4 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (21;366) 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 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 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
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
31 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438)
 Autosomal Semidominant (1;4)
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
immune system
OVA-specific IgE - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
32 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Unknown (13;0)
 Autosomal Recessive (5;62)
2017-08-08
Diantha La Vine
dsDNA induced type I IFN production - increased
FACS B:T cells - decreased
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 - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 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 T cells - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
T-dependent humoral response defect- decreased antibody response to rSFV
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
33 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Unknown 2017-08-08
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
34 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
35 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive (1;3) 2016-07-13
Anne Murray
pigmentation
skin/coat/nails
36 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) 2016-05-13
Peter Jurek
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
37 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) 2018-05-22
Anne Murray
Circadian rhythm
Circadian Tau Chi Squared Periodogram - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK T cells - increased
immune system
innate fear - decreased
nervous system
pigmentation
skin/coat/nails
38 UTSW
has photo
Slc45a2 voldemort 15 11000721-11029233 bp (+) Unknown (1;0) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
39 UTSW Ptpn6 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
 Autosomal Semidominant (6;34)
2018-04-09
Anne Murray
FACS B cells - decreased
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central 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 CD8 T cells in CD8 T cells - decreased
immune system
40 UTSW Trp53bp1 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
immune system
41 UTSW Rasgrp1 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (19;272) 2018-07-19
Anne Murray
FACS B:T cells - increased
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 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
FACS T cells - decreased
immune system
42 UTSW
has photo
Egfr Velvet 11 16752203-16918158 bp (+) 16904399 Unknown (1;0) 2016-11-10
Anne Murray
immune system
lethality-embryonic/perinatal
skin/coat/nails
touch/vibrissae
vision/eye
43 UTSW Prkcb Untied 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) 2016-12-09
Katherine Timer
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
44 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Unknown 2016-05-13
Stephen Lyon
FACS NK cells - decreased
hematopoietic system
immune system
45 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
 Autosomal Recessive (9;108)

 Autosomal Semidominant (4;47)
2017-09-08
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS NK T cells - increased
FACS T cells - increased
immune system
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
46 APN Card11 unmodulated 5 140872999-141000596 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
47 UTSW Tlr3 Ultraman 8 45395665-45410608 bp (-) 45402981 Unknown (1;0)
 Autosomal Semidominant (2;27)
2018-01-31
Anne Murray
immune system
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
48 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
 Autosomal Semidominant (1;6)
2017-05-10
Katherine Timer
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
49 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
 Autosomal Recessive (1;5)
2017-03-03
Anne Murray
behavior/neurological
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
50 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
51 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) 2016-12-30
Katherine Timer
hematopoietic system
immune system
52 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (2;12) 2018-01-30
Anne Murray
FACS B1 cells - increased
FACS B1a cells in B1 cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
53 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive (7;34) 2017-06-16
Bruce Beutler
adipose tissue
Body Weight - increased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Female) - increased
Circadian Final Body Weight - increased
Circadian rhythm
Circadian Tau Activity Onset - increased
growth/size
54 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
55 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown 2018-05-22
Anne Murray
behavior/neurological
56 UTSW Zap70 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
57 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (1;6) 2018-02-02
Anne Murray
immune system
OVA-specific IgE after 2nd OVA/Alum - increased
58 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 2018-04-25
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
immune system
impaired response to dsDNA- type I IFN production by macrophages
59 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) 2016-05-13
Stephen Lyon
immune system
RVFV susceptibility
skin/coat/nails
60 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) 2017-03-23
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
61 UTSW Gck tootsie 11 5900820-5950081 bp (-) 5909150 Unknown (2;0) 2018-04-20
Anne Murray
30 min GTT hyperglycemic
Pfizer: increase in 30 Min Glucose Residual
62 UTSW
has photo
Gk5 toku 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
 Autosomal Recessive (2;5)
2018-04-27
Anne Murray
FACS CD4:CD8 - decreased
immune system
skin/coat/nails
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
63 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) 2016-11-01
Katherine Timer
DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
64 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown 2016-05-13
Anne Murray
normal phenotype
65 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
2016-11-01
Katherine Timer
dsDNA induced type I IFN production - increased
FACS CD11c+ DCs - decreased
FACS IgM MFI - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
66 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
 Autosomal Recessive (3;23)
2016-05-13
Anne Murray
behavior/neurological
immune system
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
67 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Unknown 2016-05-13
Peter Jurek
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
68 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown 2016-05-13
Anne Murray
lethality-embryonic/perinatal
pigmentation
skin/coat/nails
69 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown 2016-05-13
Stephen Lyon
growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
70 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2016-05-13
Peter Jurek
FACS CD8+ T cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
71 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Unknown 2016-05-13
Bruce Beutler
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
72 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
73 UTSW Jak3 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (1;9) 2016-05-13
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
74 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309)
 Autosomal Semidominant (1;4)
2016-08-12
Bruce Beutler
Body Weight (DSS Female) - decreased
Circadian rhythm
Circadian Tau Chi Squared Periodogram - increased
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
immune system
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
75 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
 Autosomal Recessive (4;30)

 Autosomal Semidominant (1;7)
2018-07-20
Anne Murray
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS CD44+ CD8 T cells - increased
growth/size
immune system
liver/biliary system
76 UTSW
has video
Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) 2018-05-22
Anne Murray
behavior/neurological
eye: optic nerve anomaly
77 UTSW Vav1 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
2018-06-13
Anne Murray
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
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
78 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
 Autosomal Recessive (5;20)
2018-04-27
Anne Murray
FACS B1b cells - decreased
FACS CD4:CD8 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
skin/coat/nails
79 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 1902-09-28
Anne Murray
30 min GTT hyperglycemic
80 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Unknown 2016-05-13
Stephen Lyon
pigmentation
skin/coat/nails
81 UTSW Lyst Swallow 13 13590409-13777440 bp (+) 13757422 Autosomal Semidominant (2;11) 2017-05-24
Katherine Timer
125-03 Response - decreased
immune system
phagocytosis in PECs - increased
82 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
behavior/neurological
83 UTSW Ighd surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;5)
2018-02-02
Anne Murray
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
immune system
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: TNF production by macrophages
84 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;12)
2017-01-31
Anne Murray
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
immune system
85 UTSW
has photo
Samd4 supermodel 14 46882854-47105811 bp (+) 47016337 Unknown 2018-03-06
Diantha La Vine
adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
86 UTSW Bcl3 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
immune system
87 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
 Autosomal Recessive (7;47)

 Autosomal Semidominant (3;15)
2018-03-30
Diantha La Vine
FACS B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS macrophages - increased
immune system
ratio of OVA-specific IgE over the total IgE - 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
88 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown 2016-05-13
Stephen Lyon
hematopoietic system
89 UTSW Inpp5d styx 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
90 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive (13;138) 2018-01-03
External Program
DSS: resistant day 10
FACS B:T cells - increased
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+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
91 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) 2016-12-09
Katherine Timer
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
92 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (2;19) 2018-02-01
Anne Murray
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
93 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38) 2017-02-23
Anne Murray
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
fasting hypoglycemia (female)
Pfizer: HOMA-IR - increased
vision/eye
94 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown 2016-10-11
Bruce Beutler
DSS: sensitive day 7
pigmentation
skin/coat/nails
95 UTSW
has video
Pcdh15 squirm 10 73099342-74649737 bp (+) Unknown 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
96 UTSW Vldlr spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (3;21) 2018-02-22
Anne Murray
eye: chorioretinal lesions
eye: increase in BM to ELM thickness
eye: retinal cystic atrophy
vision/eye
97 UTSW Ednrb sposh 14 103814625-103844173 bp (-) 103821714 Autosomal Recessive (1;4) 2018-03-28
Anne Murray
pigmentation
skin/coat/nails
98 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
99 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Unknown 2016-12-08
Anne Murray
100 UTSW Slc24a4 spindly 12 102128733-102267091 bp (+) 102264944 Autosomal Recessive (2;8) 2018-04-26
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
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