Phenotypic Mutations

18 mutations affecting 18 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 18 of 18] 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 Pde6d 0.212 costume 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
 Autosomal Recessive (3;16)
2018-09-05
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
2 UTSW
has photo
Lyst 0.466 vulpix 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (3;10) 2018-08-02
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 pigmentation
 skin/coat/nails
3 UTSW
has photo
Spink5 1.000 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) 2018-05-22
Anne Murray
 immune system
 lethality-postnatal
 skin/coat/nails
4 UTSW
has photo
Lepr 0.000 odd 4 101717404-101815352 bp (+) 101728075 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
5 UTSW
has video
Pcdh15 0.300 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10) 2018-02-02
Anne Murray
 behavior/neurological
 OVA-specific IgE after 2nd OVA/Alum - increased
6 UTSW Irf4 0.369 Honey2 13 30749226-30766976 bp (+) 30761490 Autosomal Dominant (1;7)
 Autosomal Recessive (1;13)

 Autosomal Semidominant (1;9)
2017-05-12
Anne Murray
 FACS B1 cells - increased
 FACS IgM MFI - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
7 UTSW Irf9 0.201 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (2;11)
 Autosomal Semidominant (3;16)
2017-04-06
Katherine Timer
 dsDNA induced type I IFN production - increased
 IgE response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
8 UTSW Tnfsf13b 0.208 Frozen 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
 Autosomal Semidominant (7;84)
2016-12-08
Katherine Timer
 FACS B cells - decreased
 FACS B1a cells - increased
 FACS CD11c+ DCs - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS T cells - 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
9 UTSW Rorc 0.622 chestnut 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (4;22)
 Autosomal Semidominant (3;14)
2016-12-07
Anne Murray
 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
 T-dependent humoral response defect- decreased antibody response to rSFV
10 UTSW Ern2 0.105 Ernie2 7 122169893-122186207 bp (-) 122180862 Autosomal Dominant (1;1) 2016-11-10
Anne Murray
 DSS: sensitive day 7
11 UTSW Sppl2a 0.368 abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
 Autosomal Semidominant (1;4)
2016-10-28
Anne Murray
 FACS central memory CD8 T cells in CD8 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
 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
12 UTSW Itgam 0.353 invisible 7 128062640-128118491 bp (+) 128070703 Autosomal Recessive (4;75)
 Autosomal Semidominant (1;7)
2016-10-27
Anne Murray
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS pDCs - increased
13 UTSW Unc13d 0.147 jinx 11 116062095-116077961 bp (-) 116073423 Unknown (1;0) 2016-10-11
Bruce Beutler
 DSS: sensitive day 7
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
14 UTSW
has photo
Egfr 0.891 set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 2016-05-13
Anne Murray
 30 min GTT hypoglycemic (male)
 skin/coat/nails
15 UTSW
has photo
Dtnbp1 0.000 salt_and_pepper 13 44922075-45002147 bp (-) 44941438 Unknown (2;0) 2016-05-13
Stephen Lyon
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
16 UTSW Myo5a 0.869 nut 9 75071015-75223688 bp (+) Unknown 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
17 UTSW Jak3 0.400 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
 Autosomal Semidominant (1;5)
2016-05-13
Peter Jurek
 cellular phenotype
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1b cells - decreased
 FACS CD8+ T cells - decreased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS macrophages - decreased
 hematopoietic system
18 UTSW Eif2ak4 0.000 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) 2016-05-13
Stephen Lyon
 adenovirus infection of macrophages - increased
 immune system
 MCMV proliferation in macrophages - increased
[records 1 to 18 of 18]