The mutation in little mice is a A-to-G transition in codon 60 that alters this residue from a aspartate to a glycine in the encoded protein (p.D60G). Reduced levels of mRNA were noted in total RNA derived from pituitary of homozygous mice, and in vitro assays demonstrated that no functional protein is made from this allele. (J:12846, J:13404)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Single point
Recessive
1
2
68

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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