Sequence analysis of the 3J allele revealed a 17 nucleotide deletion beginning at base 1874. This deletion results in a shift of the reading frame, and a premature termination of the protein at the 11th amino acid after the deletion site. The mutation is predicted to result in a truncated receptor without a transmembrane domain and affects all Lepr splice variants. (J:40658)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P3/J
Spontaneous
Intragenic deletion
Recessive
1
1
10

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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