Phenotypic Mutations

73 mutations affecting 59 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 74 of 74] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
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Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW Dock2 0.000 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) 2018-11-29
Diantha La Vine
 FACS B cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
2 UTSW Dock2 0.000 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (5;25)
2018-11-29
Diantha La Vine
 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
 total IgE level - increased
3 UTSW Stk4 0.000 hallon 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (26;302) 2018-10-29
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 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 IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - 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
4 UTSW Ppp3cb 0.000 Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
 Autosomal Recessive (4;21)

 Autosomal Semidominant (8;48)
2018-10-25
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 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 CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 OVA-specific IgE - increased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
5 UTSW Ptprc 0.256 fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-10-05
Diantha La Vine
 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
6 UTSW Tnip1 0.000 trinity 11 54910785-54962917 bp (-) 54939596 Autosomal Recessive (14;110)
 Autosomal Semidominant (4;17)
2018-10-02
External Program
 FACS B1 cells - increased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD8 MFI - increased
 FACS IgM MFI - decreased
 FACS NK cells - decreased
 OVA-specific IgE - increased
7 UTSW Diaph1 0.000 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
 Autosomal Dominant (1;5)

 Autosomal Semidominant (8;34)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 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
 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
8 UTSW Diaph1 0.000 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 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
 MCMV susceptibility
9 UTSW Gk5 0.000 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (5;27)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 skin/coat/nails
10 UTSW Gk5 0.000 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
 Autosomal Recessive (5;20)
2018-09-24
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
11 UTSW
has photo
Fa2h 0.261 sparse 8 111345135-111393824 bp (-) 111355398 Unknown 2018-09-19
Anne Murray
12 UTSW Itgb2 0.372 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (23;170) 2018-09-18
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - decreased
 FACS NK T cells - increased
 NK cell response - decreased
 NK killing - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - increased
13 UTSW Tbx21 0.132 plateau 11 97098071-97115331 bp (-) 97101478 Autosomal Dominant (2;11)
 Autosomal Recessive (4;19)
2018-09-13
Anne Murray
 Body Weight (BP Female) - decreased
 Body Weight (Female) - decreased
 FACS CD4:CD8 - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
14 UTSW Ern2 0.105 ernie 7 122169893-122186207 bp (-) 122171661 Autosomal Recessive (2;19) 2018-08-21
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
15 UTSW
has photo
Kitl 0.579 gregory 10 100015630-100100416 bp (+) 100076906 Unknown 2018-08-06
Anne Murray
 pigmentation
 skin/coat/nails
16 UTSW
has photo
Kitl 0.579 mooyah 10 100015630-100100416 bp (+) 100088222 Autosomal Recessive (1;4) 2018-08-06
Anne Murray
 pigmentation
 skin/coat/nails
17 UTSW Lyst 0.466 souris 13 13590397-13778803 bp (+) 13683224 Unknown (1;0) 2018-08-02
Diantha La Vine
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
18 UTSW
has photo
Lyst 0.466 50-cal 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (5;26) 2018-08-02
Diantha La Vine
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS pDCs - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 MCMV susceptibility
 pigmentation
 skin/coat/nails
19 UTSW Mlh1 0.000 andalusia3 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) 2018-08-02
Anne Murray
 FACS B:T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
20 UTSW
has photo
Slc45a2 0.154 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
21 UTSW Bbs9 0.557 corpulent 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
 Autosomal Recessive (5;72)
2018-08-01
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
22 UTSW Nfkb1 0.622 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
 Autosomal Semidominant (4;22)
2018-07-20
Diantha La Vine
 DSS: sensitive day 10
 FACS central memory CD8 T cells in CD8 T cells - 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
23 UTSW Trpa1 0.119 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) 2018-07-19
Anne Murray
24 UTSW Prkdc 0.976 clover 16 15637866-15842235 bp (+) 15702157 Unknown 2018-06-22
Diantha La Vine
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
25 UTSW Fnip1 0.680 hamel 11 54438199-54518235 bp (+) 54480685 Unknown 2018-06-15
Diantha La Vine
 hematopoietic competition - disadvantage
 hematopoietic system
 homeostasis/metabolism
 muscle
26 UTSW
has video
Atcay 0.244 wobbley 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
 behavior/neurological
27 UTSW Epha4 0.781 frog 1 77367185-77515088 bp (-) 77481076 Unknown 2018-05-22
Anne Murray
 behavior/neurological
28 UTSW Agtpbp1 0.614 drunk 13 59445742-59585227 bp (-) 59512323 Unknown 2018-05-22
Anne Murray
 behavior/neurological
29 UTSW Lepr 0.000 giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (8;44) 2018-05-22
Anne Murray
 30 min GTT hyperglycemic
 Body Weight (Male) - increased
 FACS macrophages - increased
 growth/size
 OVA-specific IgE - increased
 total IgE level - increased
30 UTSW Inpp5d 0.914 Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
 Autosomal Semidominant (5;25)
2018-05-10
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD4 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
31 UTSW
has video
Myo6 0.646 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 2018-04-25
Anne Murray
 behavior/neurological
 dsDNA induced type I IFN production - increased
 hearing/vestibular/ear
 impaired response to dsDNA- type I IFN production by macrophages
32 UTSW
has video
Pcdh15 0.300 mcduck 10 73099342-74649737 bp (+) 74626844 Unknown 2018-04-25
Anne Murray
33 UTSW Malt1 0.167 mousebird 18 65430962-65478823 bp (+) 65475260 Autosomal Recessive (5;22)
 Autosomal Semidominant (1;6)
2018-04-18
Diantha La Vine
 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
34 UTSW Ltbr 0.117 kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (3;20) 2018-04-02
Diantha La Vine
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
35 UTSW Prkdc 0.976 screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) 2018-03-28
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS neutrophils - increased
36 UTSW Prkdc 0.976 screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
 Autosomal Semidominant (1;4)
2018-03-28
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS) - decreased
 FACS IgD MFI - 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
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
37 UTSW
has photo
Hr 0.000 mister_clean 14 70552212-70573548 bp (+) 70560065 Unknown 2018-03-02
Diantha La Vine
 Body Weight (DSS Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 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+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS T cells - decreased
 skin/coat/nails
38 UTSW Rims4 0.074 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) 2018-02-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
39 UTSW Ighd 0.084 surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;5)
2018-02-02
Anne Murray
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: TNF production by macrophages
40 UTSW Fcer2a 0.000 arum 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 2018-01-28
Bruce Beutler
 FACS CD11c+ DCs - increased
41 UTSW
has photo
Ap3b1 0.470 bullet_gray 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) 2018-01-15
Diantha La Vine
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
42 UTSW Inpp5d 0.914 styx 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 growth/size
 hematopoietic system
 homeostasis/metabolism
 immune system
 life span-post-weaning/aging
 respiratory system
43 UTSW Cd40 0.000 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
 Autosomal Recessive (3;35)

 Autosomal Semidominant (1;4)
2017-08-30
Anne Murray
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory 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
 total IgE level - decreased
44 UTSW Cd22 0.000 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
2017-08-03
Diantha La Vine
 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
 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
45 UTSW Dock8 0.178 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (6;27) 2017-05-17
Anne Murray
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 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
46 UTSW Ciita 0.186 sisal 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
 Autosomal Semidominant (1;4)
2017-05-12
Anne Murray
 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
 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
47 UTSW Col1a1 1.000 seal 11 94936224-94953042 bp (+) 94947184 Unknown 2017-05-02
Katherine Timer
 behavior/neurological
 skeleton phenotype
48 UTSW Mlkl 0.094 mecro 8 111311797-111338177 bp (-) 111319716 Autosomal Recessive (2;18) 2017-04-11
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
49 UTSW Rel 0.000 Horus 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (8;41)
 Autosomal Semidominant (6;29)
2017-03-28
Katherine Timer
 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
 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
 total IgE level - decreased
50 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) 2017-03-28
Katherine Timer
 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
51 UTSW
has video
Myo15 0.000 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
 Autosomal Recessive (1;5)
2017-03-03
Anne Murray
 behavior/neurological
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
52 UTSW
has video
Myo15 0.000 parker 11 60469339-60528369 bp (+) 60520914 Unknown 2017-03-02
Katherine Timer
53 UTSW Col6a2 0.115 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) 2017-01-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
54 UTSW
has photo
Tmprss6 0.138 ekans 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
 Autosomal Semidominant (1;4)
2016-12-07
Anne Murray
 FACS T cells - decreased
 skin/coat/nails
55 UTSW Prkcq 0.000 celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) 2016-11-08
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
56 UTSW
has photo
Hps5 0.253 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
2016-11-01
Katherine Timer
 dsDNA induced type I IFN production - increased
 FACS CD11c+ DCs - decreased
 FACS IgM MFI - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 pigmentation
 skin/coat/nails
57 UTSW
has photo
Hps5 0.253 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) 2016-11-01
Katherine Timer
 DSS: sensitive day 7
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
 vision/eye
58 UTSW Ticam1 0.000 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) 2016-10-13
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
59 UTSW Ifngr1 0.000 marigold 10 19591949-19610229 bp (+) 19601485 Autosomal Dominant (4;16)
 Autosomal Recessive (3;22)
2016-09-27
Anne Murray
 FACS B cells - increased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS macrophages - decreased
 TLR signaling defect: hyposensitivity to poly I:C + IFNg
 TLR signaling defect: TNF production by macrophages
60 UTSW Tyrp1 0.230 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 2016-09-15
Katherine Timer
 pigmentation
 skin/coat/nails
61 UTSW
has photo
Tmprss6 0.138 cubone 15 78439667-78468634 bp (-) 78446657 Autosomal Recessive (1;8) 2016-08-17
Anne Murray
 growth/size
 skin/coat/nails
62 UTSW Ruvbl2 1.000 Worker 7 45421760-45438096 bp (-) 45431318 Unknown (2;0) 2016-05-13
Stephen Lyon
 FACS CD4+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
63 UTSW
has photo
Pax3 0.720 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
64 UTSW Flt3 0.000 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) 2016-05-13
Anne Murray
 FACS CD4:CD8 - increased
 growth/size
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
65 UTSW
has photo
Tgm3 0.088 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) 2016-05-13
Stephen Lyon
 immune system
 RVFV susceptibility
 skin/coat/nails
66 UTSW Tfr2 0.000 iron-man 5 137569840-137587481 bp (+) 137583153 Unknown 2016-05-13
Stephen Lyon
 homeostasis/metabolism
 iron excess
67 UTSW
has video
Dst 0.420 gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
 Autosomal Recessive (4;14)
2016-05-13
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
68 UTSW Slc15a4 0.079 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) 2016-05-13
Anne Murray
 response to injected CpG DNA - decreased
 TLR signaling defect: type I IFN production by pDC
69 APN Dock8 0.178 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown 2016-05-13
Peter Jurek
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
70 UTSW Malt1 0.167 bryce_canyon 18 65430962-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
 Autosomal Semidominant (1;3)
2016-05-13
Anne Murray
 FACS CD8a+ 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
71 UTSW
has photo
Frem1 0.611 bat 4 82897920-83052339 bp (-) 82983060 Unknown 2016-05-13
Stephen Lyon
 limbs/digits/tail phenotype
 renal/urinary system
 skin/coat/nails
 vision/eye
72 UTSW Col4a4 0.289 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
 digestive/alimentary
 hearing/vestibular/ear
 renal/urinary system
73 APN Atp11c 0.106 ambrosius X 60223290-60592698 bp (-) 36608577 Unknown 2016-05-13
Stephen Lyon
 anemia
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
74 APN Atp11c 0.106 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown 2016-05-13
Stephen Lyon
 anemia
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
[records 1 to 74 of 74]