Phenotypic Mutations

65 mutations affecting 52 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 66 of 66] per page Full List Export
 
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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 UTSW
has photo
Lyst 50-cal 13 13590409-13777440 bp (+) 13708212 Autosomal Recessive (9;84) FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS pDCs - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
post-MCMV FACS B1 cells - increased
skin/coat/nails
3 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
4 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
5 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive (5;32) FACS B cells - decreased
FACS CD11c+ DCs - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
immune system
6 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (5;27)
Autosomal Semidominant (1;4)
FACS CD4:CD8 - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
skin/coat/nails
7 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Unknown limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
8 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
Autosomal Semidominant (1;3)
FACS CD8a+ DCs (gated in CD11c+ 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
9 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
10 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 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
11 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
12 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
13 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
14 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
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
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive (1;8) growth/size
skin/coat/nails
17 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
immune system
total IgE level - increased
18 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
19 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown behavior/neurological
nervous system
20 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive (2;13)
Autosomal Semidominant (1;4)
DSS: sensitive day 10
FACS T cells - decreased
immune system
skin/coat/nails
21 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive (2;19) DSS: sensitive day 10
DSS: sensitive day 7
22 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) response to injected CpG DNA - decreased
TLR signaling defect: type I IFN production by pDC
23 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
24 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown behavior/neurological
immune system
nervous system
25 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
26 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;61) 30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
immune system
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
Pfizer: decrease in fasting glucose residual (male)
total IgE level - increased
27 UTSW
has photo
Ghr gnome 15 3317760-3583492 bp (-) 3388646 Autosomal Recessive (11;58) 30 min GTT hypoglycemic (female)
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
immune system
MCMV susceptibility
OVA-specific IgE - increased
post-MCMV FACS B cells - decreased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS macrophages - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
28 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
29 UTSW Diaph1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
Autosomal Dominant (1;5)

Autosomal Semidominant (8;34)
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 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 effector memory CD4 T cells in CD4 T cells - increased
immune system
MCMV susceptibility
OVA-specific IgE - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
30 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Unknown hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
31 UTSW Rel Horus 11 23741514-23770970 bp (-) 23753215 Autosomal Recessive (9;53)
Autosomal Semidominant (6;29)
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - 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
FACS T cells - increased
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
32 UTSW Tfr2 iron-man 5 137569851-137587481 bp (+) 137583153 Unknown homeostasis/metabolism
iron excess
33 UTSW Ltbr kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (5;28) FACS B:T cells - increased
FACS IgD MFI - decreased
FACS T cells - decreased
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
34 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
35 UTSW
has video
Pcdh15 mcduck 10 73099342-74649737 bp (+) 74626844 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
36 UTSW Mlkl mecro 8 111311797-111338177 bp (-) 111319716 Autosomal Recessive (2;18) immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
37 UTSW
has photo
Hr mister_clean 14 70552212-70573548 bp (+) 70560065 Unknown skin/coat/nails
38 UTSW
has photo
Kitl mooyah 10 100015630-100100413 bp (+) 100088222 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
39 UTSW Malt1 mousebird 18 65430963-65478823 bp (+) 65475260 Autosomal Recessive (5;22)
Autosomal Semidominant (1;6)
immune system
post-MCMV FACS B1b cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
40 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
41 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
42 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
43 UTSW
has video
Myo15 parker 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive (1;4) behavior/neurological
hearing/vestibular/ear
44 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) Body Weight - decreased
Body Weight (Male) - decreased
growth/size
45 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
46 UTSW Prkdc screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
Autosomal Semidominant (1;4)
Body Weight - decreased
Body Weight (DSS) - decreased
FACS IgD MFI - 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
47 UTSW Prkdc screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) FACS B cells - decreased
FACS B1b cells - increased
FACS neutrophils - increased
immune system
48 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Unknown behavior/neurological
skeleton phenotype
49 UTSW Diaph1 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
FACS B1 cells - decreased
FACS CD8+ T cells - decreased
FACS T cells - decreased
immune system
50 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
51 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (8;34)
Autosomal Semidominant (1;4)
eye: fundus spots
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
52 UTSW Lyst souris 13 13590409-13777440 bp (+) 13683224 Unknown (1;0) hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
pigmentation
skin/coat/nails
53 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
54 UTSW Ighd surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
Autosomal Semidominant (1;5)
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
immune system
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: TNF production by macrophages
55 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
56 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
57 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
58 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) immune system
RVFV susceptibility
skin/coat/nails
59 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
immune system
impaired response to dsDNA- type I IFN production by macrophages
60 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
61 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) FACS NK cells - decreased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
62 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) pigmentation
skin/coat/nails
63 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown behavior/neurological
nervous system
64 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Unknown (2;0) FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
65 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
Autosomal Dominant (5;11)

Autosomal Recessive (4;14)


Autosomal Semidominant (6;17)
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
66 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown pigmentation
skin/coat/nails
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