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Map2k1tm2.1Chrn
Targeted Allele Detail
Summary
Symbol: Map2k1tm2.1Chrn
Name: mitogen-activated protein kinase kinase 1; targeted mutation 2.1, M Jean Charron
MGI ID: MGI:6157680
Synonyms: Mek1Y130C
Gene: Map2k1  Location: Chr9:64093066-64160887 bp, - strand  Genetic Position: Chr9, 34.55 cM
Alliance: Map2k1tm2.1Chrn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:261678
Parent Cell Line:  WW6 (ES Cell)
Strain of Origin:  STOCK 129/Sv and C57BL/6J and SJL
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Duplication, Insertion, Single point mutation
 
Mutation detailsThe gene was targeted to reproduce the most common human mutation associated with cardio-facial-cutaneous (CFC) syndrome by creating an A-to-G transition in exon 3 at the base corresponding to nucleotide position 389 of the cDNA, resulting in replacement of tyrosine by cysteine at amino acid position 130 of the protein (Y130C). A loxP-flanked neomycin selection cassette was introduced and subsequently deleted by Cre recombinase, leaving a single loxP site in intron 2. Sequence analysis revealed a 61.4-kb intragenic duplication beginning 5.6 kb upstream of the transcription initiation site and extending into the fifth intron, with a single break junction between intron 5 of the 5' copy and the upstream sequence of the 3' copy suggesting it arose through unequal crossing over. Southern blot analysis using a restriction endonuclease that cuts within the intron 2 loxP sequence showed that the Y130C point mutation resides in the 5' copy.

Total Map2k1 mRNA abundance in kidneys, lungs and thymi of mice heterozygous for this and a null mutation (Map2k1tm1Chrn) was shown via qRT-PCR to be about half that in wild-type (Map2k1+/+) tissues; sequence analysis of the qRT-PCR products revealed the presence of both Y130C mutant and wild-type transcripts in the compound heterozygotes. Similarly, immunoblot analyses demonstrated total MAP2K1 protein levels in both Map2k1tm2.1Chrn/ Map2k1tm1Chrn (Mek1Y130C/-) and Map2k1+/ Map2k1tm1Chrn (Mek1+/-) tissues ~50% of wild-type (Mek+/+) levels. (J:261678)

Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Map2k1 Mutation:  92 strains or lines available
References
Original:  J:261678 Aoidi R, et al., Mek1(Y130C) mice recapitulate aspects of human cardio-facio-cutaneous syndrome. Dis Model Mech. 2018 Mar 13;11(3):dmm031278
All:  1 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
04/09/2024
MGI 6.23
The Jackson Laboratory