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Allele : Smtn<m1Btlr> smoothelin; mutation 1, Bruce Beutler

Primary Identifier  MGI:6114749 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Smtn
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced C to A transversion at base pair 3,531,326 (v38) on chromosome 11, or base pair 8,329 in the GenBank genomic region NC_000077. The mutation corresponds to residue 912 in the mRNA sequence NM_013870 within exon 7 of 21 total exons. The mutation results in an alanine (A) to aspartic acid (D) substitution at position 223 (A223D) in all variants of the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • runtish,
  • runtish
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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