Alb^Mhdabcl002
Chemically induced Allele Detail

Summary

• Symbol: Alb^Mhdabcl002
• Name: albumin; Martin Hrabe de Angelis bone calcium low mutant 002
• MGI ID: MGI:5424986
• Synonyms: Alb^BCL002, BCL002
• Gene: Alb Location: Chr5:90608756-90624461 bp, + strand Genetic Position: Chr5, 44.7 cM
• Alliance: Alb^Mhdabcl002 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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). (J:82809)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Alb Mutation: 91 strains or lines available

References

• Original: J:183993 Sabrautzki S, et al., New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm Genome. 2012 Aug;23(7-8):416-30
• All: 2 reference(s)