The phenotype of the Frings mouse has been attributed to a single nucleotide deletion (guanine 7009) that results in a nonsense mutation in exon 27 (codon 2072). The stop codon putatively precludes translation of a multicopper oxidase (MCOI) consensus site in all three splice variants. The allele was originally described in RB/1 strain, but subsequently the same mutation was found in BUB/BnJ strain but not in 11 other strains of Swiss albino mice. (J:71344)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
various
Spontaneous
Intragenic deletion
Recessive
1
9
11

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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