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Allele : Alb<Mhdabcl002> albumin; Martin Hrabe de Angelis bone calcium low mutant 002

Primary Identifier  MGI:5424986 Allele Type  Chemically induced (ENU)
Gene  Alb Inheritance Mode  Semidominant
Strain of Origin  C3HeB/FeJ Is Recombinase  false
Is Wild Type  false
molecularNote  This ENU-induced mutation was discovered in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. It has been identified as a T-to-C transition at nucleotide position 670 of the cDNA sequence, in exon 6 of the gene, resulting in replacement of cysteine by arginine at amino acid position 224 of the protein (C224R; Cys224Arg).
  • mutations:
  • Single point mutation
  • synonyms:
  • Alb<BCL002>,
  • BCL002,
  • Alb<BCL002>,
  • BCL002
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories