Alms1^m2Btlr

---

Species

Mus musculus

Symbol

Alms1^m2Btlr

Category

allele

Allele of gene

Alms1

Transgenic Constructs

None

Synonyms

• ares2

Description

ENU-induced C to T transition at base pair 85,677,990 (v38) on chromosome 6, or base pair 90,492 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 8,225 in the NM_145223.2 mRNA sequence in exon 16 of 23 total exons (c.8225C>T). The mutation results in substitution of glutamine 2,704 to a premature stop codon (p.Q2704*) in the ALMS1 protein.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations