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Allele : Alms1<m4Btlr> ALMS1, centrosome and basal body associated; mutation 4, Bruce Beutler

Primary Identifier  MGI:6268762 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Alms1
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to C transition at base pair 85,619,712 (v38) on chromosome 6, or base pair 32,214 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 1,634 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in a serine to proline substitution at amino acid 507 (S507P) in the ALMS1 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • portly,
  • portly
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories