Phenotypic Mutations

17 mutations affecting 16 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 17 of 17] 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 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (5;29) 2018-11-29
Diantha La Vine
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 OVA-specific IgE - increased
 total IgE level - increased
2 UTSW
has video
Psap 1.000 twerk 10 60277627-60302597 bp (+) 60300851 Autosomal Dominant (1;1)
 Autosomal Recessive (1;3)
2018-11-16
Anne Murray
 behavior/neurological
 fasting hyperglycemia
3 UTSW
has photo
Lyst 0.466 charlotte_gray 13 13590397-13778803 bp (+) 13602026 Unknown 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
4 UTSW
has photo
Slc45a2 0.154 yuki 15 11000721-11029233 bp (+) 11001092 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
5 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
6 UTSW
has photo
Hr 0.000 prune 14 70552212-70573548 bp (+) 70571429 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
7 UTSW Atp7b 0.393 daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) 2017-12-19
Anne Murray
 liver/biliary system
 MTT Value of PECs - decreased
8 UTSW Tap1 0.000 rose2 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
 Autosomal Recessive (6;35)

 Autosomal Semidominant (1;6)
2017-09-11
Diantha La Vine
 FACS CD4:CD8 - increased
 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
9 UTSW Rac2 0.110 Big_bend 15 78559167-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
 Autosomal Recessive (5;12)

 Autosomal Semidominant (2;10)
2017-08-09
Diantha La Vine
 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
10 UTSW Rag2 0.295 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (14;92)
 Autosomal Semidominant (1;4)
2017-05-17
Anne Murray
 FACS B cells - decreased
 FACS B1b cells - increased
 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
 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
11 UTSW Traf3 1.000 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (1;8) 2017-03-29
Katherine Timer
 T-dependent humoral response defect- decreased antibody response to rSFV
12 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
13 UTSW Nlrp3 0.050 Nd1 11 59541568-59566956 bp (+) 59565974 Unknown (1;0) 2017-03-02
Katherine Timer
 immune system
 NALP3 inflammasome signaling defect
14 UTSW Nlrp3 0.050 Park6 11 59541568-59566956 bp (+) 59549036 Autosomal Dominant (2;4) 2017-03-02
Katherine Timer
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
15 APN Rc3h1 0.299 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown 2016-05-13
Peter Jurek
 autoimmunity
 immune system
16 UTSW Fasl 0.355 riogrande2 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) 2016-05-13
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
17 UTSW Cryaa 0.000 L1n 17 31677933-31681724 bp (+) 31681025 Unknown 2016-05-13
Stephen Lyon
 vision/eye
[records 1 to 17 of 17]