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Mmp14m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Mmp14m1Btlr
Name: matrix metallopeptidase 14 (membrane-inserted); mutation 1 Bruce Beutler
MGI ID: MGI:3784968
Synonyms: cartoon
Gene: Mmp14  Location: Chr14:54669055-54679913 bp, + strand  Genetic Position: Chr14, 27.79 cM
Alliance: Mmp14m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation is a T-to-C transition at nucleotide position 1642 (Genbank Accession NM_008608) resulting in replacement of serine by proline at amino acid position 422 of the protein (S422P), near the middle of the hemopexin-like domain, which is involved in homodimer formation and mediates association with and cleavage of CD44. (J:133626)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Mmp14 Mutation:  44 strains or lines available
References
Original:  J:133626 Du X, et al., Cartoon is an allele of Mmp14 associated with craniofacial anomolies, retarded growth and reduced viability. MGI Direct Data Submission. 2008;
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
11/12/2024
MGI 6.24
The Jackson Laboratory