Phenotypic Mutations

579 mutations affecting 277 genes are currently displayed.
Mutations Mapped and Identified Based on Phenotype
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and
and
1 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Unknown skin/coat/nails
2 UTSW
has video
 Dst tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
Autosomal Recessive (3;23) 		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
3 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
4 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) behavior/neurological
growth/size
5 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) 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
6 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Unknown FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
7 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438)
Autosomal Semidominant (1;4) 		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
8 UTSW Zap70 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (7;29) FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
9 APN Zap70 murdock 1 36761798-36782818 bp (+) 36779704 Unknown CD8 response - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
10 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Unknown FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic competition - disadvantage
immune system
11 APN Zap70 mrtless 1 36761798-36782818 bp (+) 36781149 Unknown CD8 response - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
12 UTSW Zap70 wanna4 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (21;366) 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
13 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive (5;62) dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
14 UTSW Stat1 roccoco 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive (10;105) CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
15 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
16 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
17 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) immune system
MCMV susceptibility
NK cell response - decreased
18 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)
19 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (8;55) FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ 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
20 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Unknown vision/eye
21 UTSW
has photo
 Crygb L10 1 65080219-65082288 bp (-) 65082157 Unknown vision/eye
22 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown behavior/neurological
23 UTSW
has photo
 Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) pigmentation
skin/coat/nails
24 UTSW Pax3 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown (1;0) pigmentation
skin/coat/nails
25 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
26 UTSW Pde6d costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
Autosomal Recessive (3;16) 		Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
27 UTSW Inpp5d styx 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
28 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
29 UTSW Inpp5d Sailing 1 87620312-87720507 bp (+) 87705964 Unknown (2;0) FACS IgM MFI - decreased
FACS NK cells - decreased
immune system
30 UTSW
has photo
 Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
31 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Unknown pigmentation
skin/coat/nails
32 UTSW Per2 Kortiku 1 91415982-91459324 bp (-) 91423829 Autosomal Recessive (2;24)
Autosomal Semidominant (2;33) 		Circadian Active Phase Duration - decreased
Circadian Phase Angle Intercept - decreased
Circadian rhythm
Circadian Tau Chi Squared Periodogram - decreased
Circadian Tau DD by eye - decreased
33 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
34 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
35 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
36 UTSW Ptprc guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (18;94)
Autosomal Semidominant (2;10) 		DSS: sensitive day 7
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS T cells - decreased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to rSFV
37 UTSW Ptprc fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
Autosomal Semidominant (1;17) 		FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS 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
38 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
39 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
40 UTSW Pappa2 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (2;11) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
41 UTSW Pappa2 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) Body Weight - decreased
Body Weight (BP) - decreased
42 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
43 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown autoimmunity
immune system
44 UTSW
has photo
 Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (3;16)

Autosomal Semidominant (4;17) 		Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
growth/size
immune system
limbs/digits/tail phenotype
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
45 UTSW Fasl riogrande2 1 161780691-161788495 bp (-) 161787138 Autosomal Recessive (1;6) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
46 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
47 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
48 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
49 UTSW
has video
 Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) behavior/neurological
eye: optic nerve anomaly
50 UTSW
has photo
 a garfield 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
51 UTSW
has photo
 a killer_whale 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
52 UTSW
has photo
 a yellowbelly 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
53 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (23;217) FACS B cells - decreased
FACS B:T cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - 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 IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
FACS NK 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
54 UTSW
has photo
 Dclre1c pee-wee 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (26;470) Blood Pressure: SBP Average - decreased
Body Weight - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
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+ 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 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK T cells - decreased
FACS T cells - decreased
growth/size
immune system
skin/coat/nails
55 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
56 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
57 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
58 UTSW
has photo
 Rxra pinkie 2 27676440-27762957 bp (+) 27752334 Unknown hematopoietic system
immune system
pigmentation
skeleton phenotype
skin/coat/nails
vision/eye
59 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) behavior/neurological
Circadian Active Phase Duration - decreased
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau Chi Squared Periodogram - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
60 UTSW
has photo
 Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
61 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (15;106)
Autosomal Semidominant (1;4) 		FACS B cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
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
62 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
63 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
64 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
65 UTSW Trp53bp1 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8;62) 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 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
66 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
Autosomal Semidominant (1;4) 		FACS B2 cells - increased
FACS IgD MFI - decreased
immune system
67 UTSW Trp53bp1 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (4;18) FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS IgD MFI - decreased
FACS T cells - decreased
immune system
68 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
69 UTSW Gatm mrbig 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive (3;23)
Autosomal Semidominant (1;7) 		Body Weight - decreased
Body Weight (Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
70 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
Autosomal Semidominant (1;4) 		FACS central memory CD8 T cells in CD8 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
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
71 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
72 UTSW
has photo
 Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) immune system
RVFV susceptibility
skin/coat/nails
73 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
Autosomal Semidominant (3;12) 		Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
limbs/digits/tail phenotype
74 UTSW Itch scratch 2 155133509-155226855 bp (+) 155172561 Autosomal Recessive (3;18)
Autosomal Semidominant (1;2) 		IgE response to a Cysteine Protease (Papain) - increased
immune system
OVA-specific IgE - increased
ratio of OVA-specific IgE over the total IgE - decreased
total IgE level - increased
75 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) Body Weight - decreased
Body Weight (Female) - decreased
growth/size
76 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
77 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3) 		immune system
OVA-specific IgE - increased
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
78 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
79 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Unknown iron deficiency
80 UTSW
has photo
 Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
81 UTSW
has photo
 Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Unknown (1;0) DSS: sensitive day 7
pigmentation
skin/coat/nails
82 UTSW
has photo
 Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) pigmentation
skin/coat/nails
83 UTSW Tlr2 languid 3 83836272-83841767 bp (-) 83837315 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
84 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
Autosomal Semidominant (3;14) 		Body Weight (Male) - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
85 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
86 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive (1;8) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
87 UTSW
has photo
 Gja8 L1 3 96918863-96926020 bp (-) 96920197 Unknown vision/eye
88 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
89 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
90 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
91 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
92 UTSW
has photo
 Dock7 moonlight 4 98936675-99120860 bp (-) Unknown behavior/neurological
DSS: sensitive day 7
pigmentation
skin/coat/nails
93 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
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 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
96 UTSW
has video
 Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) behavior/neurological
hearing/vestibular/ear
97 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Unknown (1;0) immune system
98 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7) 		FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
immune system
99 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32) 		FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
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
100 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) FACS B220 MFI - decreased
immune system
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
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