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A C-to-G mutation results in a proline to arginine substitution at residue 447 (p.P447R). This variant has been identified in BALB/c and DBA/2 mice from Jackson Laboratory, Charles River, and Hilltop. Levels of mRNA do not seem to be affected but protein activity is reduced 40% in the frontal cortex and striatum of BALB/cJ mice as compared to 129X1/SvJ mice. (J:94745)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
