Mcph1^{Gt(RRO608)Byg}
Gene trapped Allele Detail

Summary

• Symbol: Mcph1^{Gt(RRO608)Byg}
• Name: microcephaly, primary autosomal recessive 1; gene trap RRO608, BayGenomics
• MGI ID: MGI:4332146
• Gene: Mcph1 Location: Chr8:18645147-18853205 bp, + strand Genetic Position: Chr8, 10.24 cM, cytoband A3
• Alliance: Mcph1^{Gt(RRO608)Byg} page

Mutation origin

• Mutant Cell Line: RRO608
• Germline Transmission: Earliest citation of germline transmission: J:157933
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector: pGT2Lxf Vector Type: gene trap
• Mutation details: The vector, containing a splice acceptor sequence upstream of a reporter gene beta-galactosidase and neomycin phosphotransferase, was inserted into intron 12. This results in a truncated protein lacking 97 amino acids in the C-terminus. Insertion of the vector does not disrupt Angpt2, which is located in intron 12 of Mcph1. The expression of wild type mRNA is significantly reduced in all tissues, and the reporter is very weakly expressed, undetectable by western blot or in situ hybridization. (J:157933)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  RRO608	CG887113 ; (MGI Seq Detail)	5' RACE	Chr8:18721199-18739073 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

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

Schematic of the Mcph1^{Gt(RRO608)Byg} gene-trap allele

Disease models

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 Mcph1 Mutation: 58 strains or lines available

Notes

All BayGenomics gene trap mutations were generated in either CGR8 or E14TG2a (129P2/OlaHsd) parental ES cell lines, with the majority in subline E14TG2a.4. The specific ES cell line in which each mutation was made is not specified.

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: 5 reference(s)