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Mcph1Gt(RRO608)Byg
Gene trapped Allele Detail
Summary
Symbol: Mcph1Gt(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: Mcph1Gt(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 detailsThe 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)
Genome Context: 
Genome Browser view of this mutation
Schematic of the Mcph1Gt(RRO608)Byg gene-trap allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory