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Col18a1tm1Pih
Targeted Allele Detail
Summary
Symbol: Col18a1tm1Pih
Name: collagen, type XVIII, alpha 1; targeted mutation 1, Taina Pihlajaniemi
MGI ID: MGI:4948124
Synonyms: Col18a1P1
Gene: Col18a1  Location: Chr10:76888013-77002351 bp, - strand  Genetic Position: Chr10, 39.72 cM, cytoband B5-C1
Alliance: Col18a1tm1Pih page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:170560
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Modified isoform(s))
Mutation:    Not Specified
 
Mutation detailsExon 1 was inactivated to form a promoter 1-specific knockout. Immunohistochemistry confirmed the lack of the short isoform protein in kidney samples. (J:170560, J:212252)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 19 assay results
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Col18a1 Mutation:  139 strains or lines available
References
Original:  J:170560 Kinnunen AI, et al., Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane. J Biol Chem. 2011 Mar 11;286(10):7755-64
All:  7 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