Phenotypic Mutations

104 mutations affecting 80 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 104] next >> last >| per page Full List Export
 
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1 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Recessive (1;7)
Autosomal Semidominant (2;20)
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - decreased
FACS pDCs - increased
immune system
2 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
adipose tissue
Body Weight - increased
Body Weight (Male) - increased
growth/size
3 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
30 Min. Insulin - increased
30 Min. Insulin (Male) - increased
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
Pfizer: DyMA-IR - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: HOMA-IR - increased
4 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Unknown Body Weight - decreased
growth/size
skin/coat/nails
5 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
6 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
7 UTSW
has photo
Lepr business_class 4 101717404-101815352 bp (+) 101764872 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
8 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) 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
9 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
Autosomal Recessive (1;1)
immune system
MCMV resistance
pigmentation
skin/coat/nails
10 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown pigmentation
skin/coat/nails
11 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Unknown (3;0) 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
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Unknown pigmentation
skin/coat/nails
13 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
14 UTSW
has photo
Lepr cherub 4 101717404-101815352 bp (+) 101768063 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
15 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
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+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS 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 rSFV
16 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Unknown (1;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
17 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
18 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive (2;5) behavior/neurological
growth/size
immune system
MCMV susceptibility
nervous system
19 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18)

Autosomal Semidominant (12;70)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - decreased
FACS T cells - increased
immune system
MCMV susceptibility
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS IgD+ B cell percentage - 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
20 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) behavior/neurological
DSS: sensitive day 10
hearing/vestibular/ear
21 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
22 UTSW Diaph1 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (17;176) 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 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
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
immune system
23 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) behavior/neurological
24 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
Autosomal Semidominant (1;4)
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
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 - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: DyMA Residual (Female) - increased
25 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown pigmentation
skin/coat/nails
26 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
27 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
28 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) 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
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
29 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (2;14) behavior/neurological
FACS CD44+ CD4 T cells - increased
hearing/vestibular/ear
immune system
30 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) behavior/neurological
growth/size
life span-post-weaning/aging
skeleton phenotype
31 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Unknown pigmentation
skin/coat/nails
32 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
33 UTSW Ppp3cb Eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
Autosomal Recessive (4;39)

Autosomal Semidominant (4;18)
FACS B:T cells - increased
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 naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
34 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
35 UTSW
has photo
Alms1 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (16;118)

Autosomal Semidominant (3;10)
30 min GTT hyperglycemic
30 Min. Insulin - increased
30 Min. Insulin (Female) - increased
30 Min. Insulin (Male) - increased
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
fasting hyperglycemia
fasting hyperglycemia (female)
Fasting Insulin - increased
Fasting Insulin (Female) - increased
Fasting Insulin (Male) - increased
growth/size
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: DyMA-IR - increased
Pfizer: HOMA Residual - increased
Pfizer: HOMA Residual (Female) - increased
Pfizer: HOMA Residual (Male) - increased
Pfizer: HOMA-IR - increased
36 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
Autosomal Recessive (1;3)

Autosomal Semidominant (2;8)
immune system
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
37 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive (1;9) Novelty: Total Activity - increased
38 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Unknown (1;0)
Autosomal Recessive (2;10)
125-03 Response - increased
Body Weight - decreased
endocrine/exocrine gland
growth/size
immune system
39 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Unknown pigmentation
skin/coat/nails
40 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
41 UTSW Irf8 Gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) cellular phenotype
FACS CD8+ T cells - decreased
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
42 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
43 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
44 UTSW
has photo
Gk5 homer 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (9;60) FACS CD4:CD8 - decreased
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 central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
skin/coat/nails
45 UTSW Rag1 huckle 2 101638282-101649501 bp (-) 101641223 Unknown FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
46 UTSW Immp2l imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive (6;36) 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
growth/size
47 UTSW Naip5 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) immune system
Nlrc4 inflammasome: low response
48 UTSW Naip5 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive (2;9) immune system
Nlrc4 inflammasome: low response
49 UTSW Tg ito 15 66670753-66850721 bp (+) 66766162 Unknown (1;0)
Autosomal Recessive (3;18)
Body Weight - decreased
Body Weight (Female) - decreased
immune system
OVA-specific IgE - increased
50 UTSW Tap1 joplin 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (4;24) 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
immune system
51 APN Muc2 kenny 7 141690340-141754693 bp (+) Unknown inflammatory bowel disease phenotype
52 UTSW Nfkb1 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
Autosomal Recessive (4;54)

Autosomal Semidominant (5;29)
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
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
total IgE after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
53 UTSW Pappa2 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
Autosomal Dominant (2;8)

Autosomal Semidominant (1;5)
Body Weight - decreased
Body Weight (Female) - decreased
Circadian Final Body Weight - decreased
Circadian rhythm
growth/size
54 UTSW Prkdc liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (23;359) Body Weight - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - 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 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS NK T cells - decreased
FACS T cells - decreased
immune system
Motor: Rotarod Training 3 - increased
55 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
56 UTSW Tlr6 m2sd1 5 64953106-64960048 bp (-) 6540276 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
57 UTSW Tlr6 m2sd2 5 64953106-64960048 bp (-) 6540076 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
58 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive (1;8) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
59 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
RVFV susceptibility
60 UTSW
has photo
Tmprss6 masquerade 15 78439668-78468634 bp (-) 78468000 Unknown hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
61 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
62 UTSW
has video
Myo6 mayday_circler 9 80165031-80311729 bp (+) 80246451 Unknown behavior/neurological
hearing/vestibular/ear
nervous system
63 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
64 UTSW Ticam2 Messi 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (4;14) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
65 UTSW
has photo
Gsdma3 Michelin 11 98626360-98638226 bp (+) 98637573 Unknown skin/coat/nails
66 UTSW
has photo
Oca2 narwhal 7 56239760-56536517 bp (+) 56295498 Autosomal Recessive (2;9) FACS CD44+ CD8 T cells - increased
immune system
pigmentation
skin/coat/nails
67 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
vision/eye
68 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown FACS macrophages - decreased
69 UTSW
has photo
Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Unknown (1;0) DSS: sensitive day 7
pigmentation
skin/coat/nails
70 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Unknown pigmentation
skin/coat/nails
71 UTSW Nlrp3 Park2 11 59541568-59566955 bp (+) 59565128 Autosomal Dominant (1;4)
Autosomal Semidominant (1;5)
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
72 UTSW Nlrp3 Park7 11 59541568-59566955 bp (+) 59548010 Autosomal Recessive (1;3)
Autosomal Semidominant (2;12)
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
OVA-specific IgE - increased
73 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
74 UTSW
has photo
Fgf5 porcupine 5 98254184-98277030 bp (+) 98254746 Unknown skin/coat/nails
75 UTSW Lep potbelly 6 29060220-29073877 bp (+) 29068972 Autosomal Recessive (5;35) 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
immune system
76 UTSW Rac2 potter 15 78559169-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
Autosomal Semidominant (2;11)
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
77 UTSW Prf1 prime 10 61297836-61304263 bp (+) 61303722 Autosomal Recessive (1;5) immune system
MCMV susceptibility
78 UTSW Vldlr r26 19 27216484-27254231 bp (+) 27245654 Unknown vision/eye
79 UTSW Lyst robin 13 13590409-13777440 bp (+) 13648802 Autosomal Recessive (1;5) pigmentation
skin/coat/nails
80 UTSW Stat1 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (4;26) fasting hyperglycemia (female)
immune system
NK cell response - decreased
NK killing - decreased
Pfizer: increase in fasting glucose residual
Pfizer: increase in fasting glucose residual (female)
81 UTSW Socs2 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (4;21)
Autosomal Semidominant (1;5)
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
Circadian Final Body Weight - increased
Circadian rhythm
growth/size
82 UTSW Prkdc screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (23;272) Body Weight - decreased
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 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
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
83 UTSW
has photo
Gk5 sean 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (9;82)
Autosomal Semidominant (1;5)
Blood Pressure: HR Day 1 - increased
FACS CD4:CD8 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
skin/coat/nails
84 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) behavior/neurological
limbs/digits/tail phenotype
nervous system
85 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (10;42) dsDNA induced type I IFN production - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
86 UTSW Myo5a silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Unknown behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
87 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
88 UTSW
has photo
Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
89 UTSW Pik3ap1 sothe 19 41274218-41385070 bp (-) 41356683 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
90 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive (2;9) FACS B220 MFI - decreased
immune system
skin/coat/nails
91 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
92 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (9;55)

Autosomal Semidominant (4;19)
125-03 Response - increased
FACS B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS 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
93 UTSW Bcl3 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 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
94 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown behavior/neurological
nervous system
95 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
96 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
97 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive (7;34) 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
98 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) hematopoietic system
immune system
99 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
100 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
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