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Hjvtm1Nca
Targeted Allele Detail
Summary
Symbol: Hjvtm1Nca
Name: hemojuvelin BMP co-receptor; targeted mutation 1, Nancy C Andrews
MGI ID: MGI:3587746
Synonyms: Hfe2-, Hjv-
Gene: Hjv  Location: Chr3:96432488-96436526 bp, + strand  Genetic Position: Chr3, 41.91 cM
Alliance: Hjvtm1Nca page
Histological examination of iron loading in Hjvtm1Nca/Hjvtm1Nca mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:100178
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 3 and the coding sequence in exon 4 were replaced upon the insertion of a floxed neo cassette, therefore deleting most of the coding sequence for the protein. (J:100178)
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: 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 Hjv Mutation:  17 strains or lines available
References
Original:  J:100178 Huang FW, et al., A mouse model of juvenile hemochromatosis. J Clin Invest. 2005 Aug 1;115(8):2187-2191
All:  29 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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Funding Information
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory