The underlying mutation responsible for the phenotype in the fierce mouse was identified as a deletion in the Nr2e1 gene. The genomic deletion was confirmed by Southern analysis and no transcript was detectable by Northern analysis in homozygous mutant animals. Presence of a human BAC transgene containing the NR2E1 gene rescues the phenotype of mice homozygous for the fierce mutation. J:99431 (J:71869, J:99431)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Spontaneous
Intragenic deletion
--
1
--
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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