Mmachc^{Gt(AZ0348)Wtsi}
Gene trapped Allele Detail

Summary

• Symbol: Mmachc^{Gt(AZ0348)Wtsi}
• Name: methylmalonic aciduria cblC type, with homocystinuria; gene trap AZ0348, Wellcome Trust Sanger Institute
• MGI ID: MGI:3857614
• Synonyms: Mdachc^Gt
• Gene: Mmachc Location: Chr4:116559631-116565582 bp, - strand Genetic Position: Chr4, 53.29 cM, cytoband C7
• Alliance: Mmachc^{Gt(AZ0348)Wtsi} page

Mutation origin

• Mutant Cell Line: AZ0348
• Germline Transmission: Earliest citation of germline transmission: J:212387
• Parent Cell Line: E14TG2a.4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd
• Project Collection: Sanger Inst. Gene Trap Res.

Mutation description

• Allele Type: Gene trapped (Null/knockout)
• Mutation: Insertion of gene trap vector Vector: pGT0lxr
• Mutation details: The gene trap vector inserted into intron 1. The mutated allele is predicted to generate a non-functional truncated protein containing the first 27 of 279 amino acids. (J:212387)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  AZ0348	CW990388 ; (MGI Seq Detail)	5' RACE	Chr4:116565434-116565546 bp (-)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  36 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Mmachc Mutation: 30 strains or lines available

References

• Original: J:141210 Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI), Mouse Gene Trap Data Load from dbGSS. Database Download. 2008
• All: 2 reference(s)