Phenotypic Mutations

15 mutations affecting 14 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 15 of 15] per page Full List Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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display


1 UTSW
has photo
Lyst charlotte_gray 13 13590397-13778803 bp (+) 13602026 Unknown 2018-08-02
Diantha La Vine
pigmentation
skin/coat/nails
2 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
3 UTSW
has photo
Spink5 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
Hr prune 14 70552212-70573548 bp (+) 70571429 Unknown 2018-03-02
Diantha La Vine
skin/coat/nails
5 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) 2017-12-19
Anne Murray
liver/biliary system
MTT Value of PECs - decreased
6 UTSW Tap1 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
immune system
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
7 UTSW Rac2 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
immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
8 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (13;93)
 Autosomal Semidominant (1;4)
2017-05-17
Anne Murray
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
9 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
10 UTSW Nlrp3 Nd1 11 59541568-59566956 bp (+) 59565974 Unknown (1;0) 2017-03-02
Katherine Timer
immune system
NALP3 inflammasome signaling defect
11 UTSW Nlrp3 Park6 11 59541568-59566956 bp (+) 59549036 Autosomal Dominant (2;4) 2017-03-02
Katherine Timer
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
12 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) 2016-12-02
Katherine Timer
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
OVA-specific IgE - increased
total IgE level - increased
13 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown 2016-05-13
Peter Jurek
autoimmunity
immune system
14 UTSW Fasl riogrande2 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) 2016-05-13
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
15 UTSW Cryaa L1n 17 31677933-31681724 bp (+) 31681025 Unknown 2016-05-13
Stephen Lyon
vision/eye
[records 1 to 15 of 15]