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Col19a1tm2Rmz
Targeted Allele Detail
Summary
Symbol: Col19a1tm2Rmz
Name: collagen, type XIX, alpha 1; targeted mutation 2, Francesco Ramirez
MGI ID: MGI:3053871
Synonyms: Delta19
Gene: Col19a1  Location: Chr1:24300971-24626553 bp, - strand  Genetic Position: Chr1, 9.99 cM, cytoband A3
Alliance: Col19a1tm2Rmz page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:92510
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA PGK-neo replaced exons 38-40, which encode the 20-residue NC3 interruption of the helical domain and one and six collagenous tripeptides located amino-and carboxyl-terminally, respectively. Sequencing of RT-PCR products confirm that the mutant transcript is in frame. Immunoblots identified a collagen-sensitive protein in mutant tissue slightly smaller than that of wild-type protein. PCR amplification indicated that mutant and wild-type transcripts are present at comparable levels in heterozygotes. (J:92510)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Col19a1 Mutation:  81 strains or lines available
References
Original:  J:92510 Sumiyoshi H, et al., Esophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zone. J Cell Biol. 2004 Aug 16;166(4):591-600
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
10/29/2024
MGI 6.24
The Jackson Laboratory