This spontaneous G-to-A mutation (ChrX:g.57092486G>A) changes glycine codon 72 to an arginine codon (p.G72R) and changes splice donor site G-GT to A-GT. It is only found in the A/J, BALB/cJ, BALB/cByJ, C3HeH, C3HeJ, and SEA/GnJ strains. (J:294207)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
various
Spontaneous
Single point
--
1
--
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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