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Allele : Alms1<m5Btlr> ALMS1, centrosome and basal body associated; mutation 5, Bruce Beutler

Primary Identifier  MGI:6269388 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 A to T transversion at base pair 85,628,735 (v38) on chromosome 6, or base pair 41,237 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 6,074 in the mRNA sequence NM_145223 within exon 10 of 23 total exons. The mutation results in substitution of lysine 1,987 for a premature stop codon (K1987*) in the ALMS1 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • earthquake,
  • earthquake
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele