Phenotypic Mutations

17 mutations affecting 17 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?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW Mlh1 andalusia2 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (1;7) 2018-08-02
Anne Murray
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
2 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Unknown 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
3 UTSW Ptprc Dumpling 1 138062861-138175708 bp (-) 138067890 Autosomal Recessive (1;7)
 Autosomal Semidominant (4;29)
2018-08-01
Anne Murray
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - decreased
FACS B220 MFI - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
4 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (3;17) 2018-04-25
Anne Murray
behavior/neurological
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
5 UTSW Ltbr kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (2;17) 2018-04-02
Diantha La Vine
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
6 UTSW
has photo
Adamts20 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
 Autosomal Semidominant (2;8)
2018-03-12
Diantha La Vine
immune system
pigmentation
skin/coat/nails
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
7 UTSW
has photo
Samd4 supermodel 14 46882854-47105815 bp (+) 47016337 Unknown 2018-03-06
Diantha La Vine
adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
8 UTSW Itk goodnow 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (16;150) 2018-01-30
Anne Murray
FACS B cells - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - 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 IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
9 UTSW
has photo
Rab27a ivan 9 73044854-73097629 bp (+) 73075544 Unknown (1;0) 2017-12-19
Anne Murray
pigmentation
skin/coat/nails
10 UTSW Map3k8 juicy 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive (2;7) 2017-09-11
Diantha La Vine
immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
11 UTSW Ifnar1 macro-1 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) 2017-04-11
Katherine Timer
adenovirus infection of macrophages - increased
immune system
influenza proliferation in macrophages - increased
MCMV proliferation in macrophages - increased
MCMV susceptibility
RVFV proliferation in macrophages - increased
12 UTSW Rel Horus 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (9;53)
 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
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
13 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) 2016-12-09
Katherine Timer
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
14 UTSW Krt33a Polished 11 100011195-100016212 bp (-) 100012611 Unknown 2016-05-13
Stephen Lyon
skin/coat/nails
15 UTSW
has photo
Sox10 Dalmatian 15 79154908-79165240 bp (-) 79163324 Unknown 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
16 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
17 APN Atp11c 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 17 of 17]