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EN
ENU-induced C to T transition at base pair 85,627,934 (v38) on chromosome 6, or base pair 40,436 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 5,273 in the NM_145223.2 (c.5273C>T) mRNA sequence in exon 10 of 23 total exons. The mutation results in substitution of glutamine 1,720 to a premature stop codon (p.Q1720*) in the ALMS1 protein. (J:264649)
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
