Phenotypic Mutations

6 mutations affecting 6 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 6 of 6] per page Full List
 
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1 UTSW Prkcd 0.546 14 30595354-30626210 bp (-) 30610301 Unknown (1;0)
 Autosomal Recessive (1;5)

 Autosomal Semidominant (2;9)
excellent candidate 2019-09-04
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS NK cells - decreased
A ⇒ G start codon destroyed probably null 0.988
2 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
 Autosomal Semidominant (2;32)
excellent candidate 2019-09-04
Diantha La Vine
 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
A ⇒ G start codon destroyed probably null 0.960
3 UTSW Mlh1 0.000 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (2;11) excellent candidate 2019-09-04
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
A ⇒ C start codon destroyed probably null 0.933
4 UTSW Il2rb 0.098 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (61;613) excellent candidate 2019-09-04
Diantha La Vine
 Blood Pressure: DBP Average - increased
 Blood Pressure: DBP Day 2 - increased
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 2 - increased
 Body Weight (BP Female) - decreased
 Body Weight (BP) - decreased
 Body Weight (BP, z-score) - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
 Body Weight (DSS, z-score) - 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+ 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
 NK cell response - decreased
 NK killing - 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
A ⇒ G start codon destroyed probably null 0.663
5 UTSW Zap70 0.303 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) no linkage results 2019-03-05
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
A ⇒ G start codon destroyed probably null 0.025
6 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778028 Unknown (1;0)
 Autosomal Recessive (4;24)

 Autosomal Semidominant (3;14)
excellent candidate 2019-01-07
Anne Murray
 125-03 Response - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 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 CD8a+ DCs (gated in CD11c+ cells) - 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 CD8 T cells in CD8 T cells - decreased
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: TNF production by macrophages
 total IgE level - increased
A ⇒ G start codon destroyed probably null 0.999
[records 1 to 6 of 6]