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Sequencing of the causative mutated gene identified a C to T transition at base pair 91499537 (v38) on Chromosome 16 in the GenBank genomic region NC_000082 encoding Ifnar1. The mutation corresponds to residue 1054 in the mRNA sequence (NM_010508.2) within exon 7 of 11 total exons. The mutation results in a glutamine (Q) to premature stop codon (*) substitution at residue 309. (J:198556)
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
