Phenotypic Mutations

51 mutations affecting 48 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 51 of 51] per page Full List Export
 
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1 UTSW Ltbr armitage 6 125306571-125313885 bp (-) 125312794 Unknown (2;0)
Autosomal Recessive (2;6)
Bone: Lean Fat Ratio (female) - increased
Bone: Lean Mass (female) - increased
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
2 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
3 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
4 UTSW Tlr9 Cpg6 9 106222598-106226883 bp (+) 106226593 Unknown (2;0) immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
5 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) FACS CD4+ 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
6 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
Circadian Active Phase Duration - decreased
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau Chi Squared Periodogram - increased
Circadian Tau DD by eye - increased
fasting hyperglycemia
7 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
8 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive (3;40)
Autosomal Semidominant (1;4)
eye: chorioretinal lesions
eye: decrease in BM to ILM thickness
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
vision/eye
9 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
Autosomal Semidominant (1;4)
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS IgD MFI - decreased
growth/size
immune system
phagocytosis in PECs - decreased
10 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
11 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (9;97)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - increased
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
12 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;61) 30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
growth/size
immune system
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
Pfizer: decrease in fasting glucose residual (male)
total IgE level - increased
13 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Unknown (1;0)
Autosomal Dominant (1;3)

Autosomal Recessive (5;24)


Autosomal Semidominant (4;16)
FACS B1 cells - increased
hyposensitivity to TLR CpGODN + IFNg
IgE response to a Cysteine Protease (Papain) - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
14 UTSW
has video
Agtpbp1 gru 13 59449537-59585227 bp (-) 59473746 Autosomal Recessive (19;136)
Autosomal Semidominant (1;5)
behavior/neurological
Blood Pressure: HR Day 3 - decreased
Body Weight - decreased
Body Weight (BP Female) - decreased
Body Weight (BP Male) - decreased
Body Weight (BP) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Bone: Femur BMD - decreased
Bone: Fore Hip Distance - decreased
Bone: Lean Mass - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Tibia Length - decreased
growth/size
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
Motor: Rotarod Training 2 - decreased
Motor: Rotarod Training 3 - decreased
15 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (49;486)
Autosomal Semidominant (7;48)
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - 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 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 - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK T cells - decreased
FACS T cells - decreased
immune system
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS macrophages - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS pDCs - decreased
post-MCMV 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
total IgE level - decreased
16 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Unknown hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
17 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
18 UTSW Naip5 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive (2;9) immune system
Nlrc4 inflammasome: low response
19 UTSW Tg ito2 15 66670753-66850721 bp (+) 66671396 Unknown (1;0)
Autosomal Recessive (10;60)

Autosomal Semidominant (1;5)
Body Weight - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
FACS B cells - decreased
FACS CD4:CD8 - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
fasting hyperglycemia
fasting hyperglycemia (female)
immune system
Pfizer: increase in fasting glucose residual
Pfizer: increase in fasting glucose residual (female)
20 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
21 UTSW Map3k14 lucky 11 103219762-103267472 bp (-) 103249558 Unknown (1;0) FACS B cells - decreased
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
22 UTSW Rorc macadamias2 3 94372831-94397839 bp (+) 94387193 Autosomal Recessive (17;113) FACS B:T cells - increased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 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+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ 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 - increased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 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
23 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
24 UTSW Msh6 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (2;24) immune system
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
25 UTSW
has photo
Hr mister_clean 14 70552212-70573548 bp (+) 70560065 Unknown skin/coat/nails
26 UTSW Fgfr4 Modest 13 55152640-55168759 bp (+) 55166251 Autosomal Semidominant (4;21) Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
FACS B1a cells in B1 cells - decreased
immune system
27 UTSW Itgb2 newhome 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
28 UTSW Itgb2 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (24;175) CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
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+ 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 CD4 T cells in CD4 T 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 - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - decreased
FACS NK T cells - increased
immune system
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
29 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (6;30)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD4 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
30 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
31 UTSW Vav1 Plain_sight 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) FACS B1 cells - decreased
immune system
32 UTSW Slc13a5 punk2 11 72241994-72267222 bp (-) 72253391 Autosomal Recessive (3;16) Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (HFD
0 weeks) - decreased
33 UTSW Oca2 quicksilver 7 56239760-56536517 bp (+) 56324661 Unknown pigmentation
skin/coat/nails
34 UTSW Tlr7 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
35 UTSW Prkdc screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) FACS effector memory CD4 T cells in CD4 T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
36 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
37 UTSW Slx4 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (5;26) Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
Circadian Final Body Weight - decreased
Circadian rhythm
growth/size
38 UTSW
has photo
Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
39 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (8;34)
Autosomal Semidominant (1;4)
eye: fundus spots
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ 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
40 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38)
Autosomal Semidominant (1;4)
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)
immune system
Pfizer: HOMA-IR - increased
TLR signaling defect: hyposensitivity to CpG + IFNg
vision/eye
41 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
Autosomal Recessive (5;20)
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
42 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (5;34)

Autosomal Semidominant (1;7)
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS B1a cells - decreased
FACS CD44+ CD8 T cells - increased
growth/size
immune system
liver/biliary system
43 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) immune system
RVFV susceptibility
skin/coat/nails
44 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
immune system
impaired response to dsDNA- type I IFN production by macrophages
45 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
behavior/neurological
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
46 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
Autosomal Semidominant (1;6)
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
47 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
48 UTSW Lepr well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
49 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown DSS: sensitive day 7
immune system
50 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) skin/coat/nails
51 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Unknown embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
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