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This mutation resulted from a spontaneous deletion/inversion event that removed exon 2, containing the initiation codon, from the leptin receptor gene. Splicing of the mutant transcript joins exon 1 to exon 3. While there is an initiation codon in exon 3, it is not in frame and its use leads to immediate termination of translation. (J:171755)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
