Phenotypic Mutations

5 mutations affecting 5 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 5 of 5] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
~
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

and
and
and
1 UTSW Il2rb 0.116 flybase 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (25;290) 2018-12-18
Anne Murray
 Body Weight (BP Female) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B220 MFI - increased
 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 effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 OVA-specific 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 - increased
2 UTSW Prkcd 0.368 rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;5)
2018-10-25
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
3 UTSW Mlh1 0.000 andalusia2 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (2;11) 2018-08-02
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
4 UTSW Pax5 1.000 glacier2 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
 Autosomal Semidominant (2;32)
2018-07-18
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS 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
5 UTSW Zap70 0.296 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) 2017-08-08
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS T cells - decreased
[records 1 to 5 of 5]