Phenotypic Mutations

583 mutations affecting 277 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 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
2 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (5;19)
behavior/neurological
Body Weight - decreased
DSS: sensitive day 7
growth/size
immune system
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
3 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
DSS: sensitive day 10
DSS: sensitive day 7
4 UTSW Traf3 Hulk 12 111166370-111267153 bp (+) 111261576 Autosomal Dominant (1;10)
Autosomal Semidominant (2;10)
FACS B 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
5 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
Autosomal Recessive (5;12)

Autosomal Semidominant (2;10)
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
6 UTSW Pax5 Glacier3 4 44531145-44710487 bp (-) 44679526 Autosomal Dominant (1;4) FACS IgD MFI - decreased
immune system
7 UTSW Tlr3 Rakshasa 8 45395665-45410608 bp (-) 45397697 Autosomal Dominant (1;4) immune system
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
8 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
30 Min. Insulin (Male) - decreased
FACS IgD MFI - decreased
immune system
9 UTSW Lyn Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)

Autosomal Semidominant (5;26)
FACS B1 cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS macrophages - increased
FACS NK cells - decreased
FACS T cells - decreased
immune system
10 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
Autosomal Recessive (10;53)

Autosomal Semidominant (4;23)
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS IgD MFI - 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 - increased
post-MCMV FACS B1b cells in B1 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
11 UTSW Bcl10 derek 3 145924378-145934283 bp (+) 145930587 Autosomal Dominant (1;4)
Autosomal Recessive (15;155)

Autosomal Semidominant (2;11)
Bone: Femur BMD (female) - increased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
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 CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
immune system
OVA-specific IgE - 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
total IgE level - increased
12 UTSW Rac2 Lamb 15 78559169-78572783 bp (-) 78564934 Autosomal Dominant (1;4)
Autosomal Recessive (2;9)
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS CD8+ T cells - increased
immune system
13 UTSW Dclre1c Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
Autosomal Recessive (3;14)

Autosomal Semidominant (5;20)
Body Weight - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - 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 CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
14 UTSW Cd40 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
Autosomal Recessive (3;35)

Autosomal Semidominant (1;4)
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory 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
total IgE level - decreased
15 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21)

Autosomal Semidominant (8;48)
Circadian Power FFT - decreased
Circadian rhythm
Circadian Wheel Revs/24H - decreased
DSS: sensitive day 10
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS NK cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - increased
16 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (7;45)
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
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
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
17 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
18 UTSW Pik3cd grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Dominant (1;4)
Autosomal Recessive (8;47)

Autosomal Semidominant (2;9)
dsDNA induced type I IFN production - increased
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
MCMV proliferation in macrophages - increased
MCMV susceptibility
OVA-specific IgE - increased
post-MCMV FACS B1a cells - decreased
post-MCMV FACS B1a cells in B1 cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
19 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
20 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
21 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
22 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
23 UTSW Irf4 Honey2 13 30749226-30766927 bp (+) 30761490 Autosomal Dominant (1;7)
Autosomal Recessive (1;13)

Autosomal Semidominant (2;18)
FACS B1 cells - increased
FACS IgM MFI - 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
24 UTSW Nlrp3 Park8 11 59541568-59566955 bp (+) 59566199 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
25 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
26 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
27 UTSW Nlrp3 Park4 11 59541568-59566955 bp (+) 59549531 Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
28 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (9;108)

Autosomal Semidominant (4;47)
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
29 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
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
30 UTSW Nlrp3 Park6 11 59541568-59566955 bp (+) 59549036 Autosomal Dominant (2;4) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
31 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
Autosomal Semidominant (2;8)
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
32 UTSW Socs7 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (2;8) Body Weight - decreased
Body Weight (DSS) - decreased
33 UTSW Tap1 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
Autosomal Recessive (6;35)

Autosomal Semidominant (1;6)
FACS CD4:CD8 - increased
immune system
MCMV susceptibility
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS T cells - decreased
34 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
35 UTSW Prkdc Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
Autosomal Semidominant (3;12)
immune system
post-MCMV FACS B cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS IgD+ B cell percentage - increased
post-MCMV FACS IgM+ B cells - increased
36 UTSW Ifngr1 marigold 10 19591949-19610229 bp (+) 19601485 Autosomal Dominant (4;16)
Autosomal Recessive (3;22)
FACS B cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
immune system
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
37 UTSW Stat1 special 1 52119440-52161865 bp (+) 52139264 Autosomal Dominant (5;35)
Autosomal Recessive (14;189)

Autosomal Semidominant (3;33)
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ 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 CD8+ T cells in CD3+ T cells - decreased
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 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 - increased
immune system
Motor: Rotarod Training 3 - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
38 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
39 UTSW Rac2 Potter2 15 78559169-78572783 bp (-) 78565454 Autosomal Dominant (8;103)
Autosomal Recessive (6;57)

Autosomal Semidominant (12;249)
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - increased
FACS B220 MFI - 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 CD44+ CD8 T cells - increased
FACS CD44+ 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 effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
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
NK cell response - decreased
NK killing - 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 After 2nd OVA/Alum Challenge (day 7) - decreased
40 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
41 UTSW
has photo
Adamts20 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
42 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
FACS B:T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
43 UTSW
has photo
Adamts20 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
Autosomal Semidominant (2;8)
immune system
pigmentation
skin/coat/nails
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
44 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) pigmentation
skin/coat/nails
45 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
46 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
47 UTSW
has photo
Ednrb gus-gus 14 103814625-103844173 bp (-) 103820013 Autosomal Recessive (1;2) lethality-postnatal
pigmentation
skin/coat/nails
48 UTSW Myo5a naoki 9 75071015-75223688 bp (+) 75161492 Autosomal Recessive (1;2) behavior/neurological
pigmentation
skin/coat/nails
49 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) behavior/neurological
limbs/digits/tail phenotype
nervous system
50 UTSW
has photo
Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
51 UTSW
has video
Pcdh15 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive (1;2) behavior/neurological
hearing/vestibular/ear
52 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 30 min GTT hyperglycemic
53 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive (1;3) pigmentation
skin/coat/nails
54 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) behavior/neurological
55 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) skin/coat/nails
vision/eye
56 UTSW
has photo
Ednrb pongo 14 103814625-103844173 bp (-) 103823274 Autosomal Recessive (1;3) digestive/alimentary
growth/size
life span-post-weaning/aging
pigmentation
skin/coat/nails
57 UTSW
has photo
Tyr rufus 7 87427405-87493411 bp (-) 87492706 Autosomal Recessive (1;3) pigmentation
skin/coat/nails
58 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive (1;3) pigmentation
skin/coat/nails
59 UTSW
has video
Syt2 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
Autosomal Semidominant (1;1)
behavior/neurological
Body Weight - decreased
growth/size
lethality-postnatal
nervous system
60 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
61 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
62 UTSW
has photo
Ap3b1 bella 13 94358960-94566316 bp (+) 94528257 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
63 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
64 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
65 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
66 UTSW
has video
Pcdh15 mcduck 10 73099342-74649737 bp (+) 74626844 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
67 UTSW Tlr4 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1;4) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
68 UTSW
has photo
Kitl mooyah 10 100015630-100100413 bp (+) 100088222 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
69 UTSW
has video
Myo15 parker 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
70 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
71 UTSW Lep potbelly2 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive (1;4) Body Weight - increased
Body Weight (DSS) - increased
growth/size
72 UTSW Ednrb sposh 14 103814625-103844173 bp (-) 103821714 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
73 UTSW
has video
Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) behavior/neurological
eye: optic nerve anomaly
74 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) skin/coat/nails
75 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4)
Autosomal Semidominant (1;12)
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
immune system
76 UTSW Irf7 Houstonian 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
dsDNA induced type I IFN production - decreased
immune system
impaired response to dsDNA- type I IFN production by macrophages
Nlrc4 inflammasome: high response
77 UTSW Pax5 k2 4 44531145-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
FACS B220 MFI - decreased
FACS IgD MFI - decreased
immune system
78 UTSW Prkdc screamer4 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
immune system
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ T cells - increased
79 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive (1;4)
Autosomal Semidominant (1;5)
dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
80 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
immune system
T-dependent humoral response defect- increased antibody response to rSFV
81 UTSW Nfkb1 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
Autosomal Semidominant (4;22)
DSS: sensitive day 10
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
82 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
83 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
84 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) skin/coat/nails
85 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
86 UTSW Lyst lightspeed 13 13590409-13777440 bp (+) 13740536 Autosomal Recessive (1;5) immune system
MCMV susceptibility
87 UTSW Nr3c2 naughty 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) Body Weight - decreased
growth/size
88 UTSW Prf1 prime 10 61297836-61304263 bp (+) 61303722 Autosomal Recessive (1;5) immune system
MCMV susceptibility
89 UTSW Lyst robin 13 13590409-13777440 bp (+) 13648802 Autosomal Recessive (1;5) pigmentation
skin/coat/nails
90 UTSW
has video
Pcdh15 spaz 10 73099342-74649737 bp (+) 74210425 Autosomal Recessive (1;5) behavior/neurological
hearing/vestibular/ear
91 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 30 min GTT hyperglycemic
92 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
Body Weight - increased
Body Weight (Male) - increased
growth/size
93 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
FACS CD8+ T cells - increased
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
94 UTSW Lyn Lemon 4 3678115-3813122 bp (+) 3746768 Autosomal Recessive (1;5)
Autosomal Semidominant (3;14)
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
immune system
95 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
30 Min. Insulin - increased
Body Weight - increased
Fasting Insulin - increased
growth/size
Pfizer: DyMA-IR - increased
Pfizer: HOMA-IR - increased
Total Cholesterol - increased
96 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (6;41)
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS IgM MFI - increased
immune system
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
97 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Autosomal Recessive (1;6) immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
98 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
99 UTSW Naip5 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) immune system
Nlrc4 inflammasome: low response
100 UTSW Fasl riogrande2 1 161780691-161788495 bp (-) 161787138 Autosomal Recessive (1;6) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
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