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This mutation, which was identified in an ENU mutagenesis screen, is due to a T-to-A transversion in exon 13 that introduces a premature stop codon upstream of the sequence encoding the transmembrane and kinase domains. Western blot analysis of protein extracts from homozygous mutant 18.5 dpc embryos and newborn mice detected no IGF1R protein. (J:105913)
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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References Literature
Title
PMID
Journal
Year
IF
