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Allele : Tmprss6<m3Btlr> transmembrane serine protease 6; mutation 3, Bruce Beutler

Primary Identifier  MGI:3829007 Allele Type  Chemically induced (ENU)
Gene  Tmprss6 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  The masquerade phenotype was discovered among G3 progeny of an ENU mutagenized male mouse. The mutation comprises a G to A transition at nucleotide position 2557 (Genbank: NM_027902), in the last of the gene's 18 exons, that results in substitution of a termination codon for one encoding tryptophan at amino acid position 783 (W783Ter). This truncates the protein by 29 amino acids at its C terminus, near the end of its serine protease domain and outside of the catalytic site.
  • mutations:
  • Single point mutation
  • synonyms:
  • masquerade,
  • masquerade
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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