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Allele : Col4a1<Bru> collagen, type IV, alpha 1; bruised

Primary Identifier  MGI:1856689 Allele Type  Chemically induced (ENU)
Gene  Col4a1 Inheritance Mode  Semidominant
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
description  The bruised mutation was found among offspring of a male treated with ethylnitrosourea (J:13980).
molecularNote  ENU mutagenesis resulted in an G>T point mutation in exon 26 resulting in the substitution of glycine with tryptophan at position 627 of the encoded peptide (p.G627W). This is predicted to cause severe detrimental effects on collagen triple helix formation and stability.
  • mutations:
  • Single point mutation
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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