Hfe<tm2Nca> Targeted Allele Detail MGI Mouse (MGI:2385353)

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Hfe^tm2Nca
Targeted Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Hfe^tm2Nca
Name:	homeostatic iron regulator; targeted mutation 2, Nancy C Andrews
MGI ID:	MGI:2385353
Synonyms:	Hfe-
Gene:	Hfe Location: Chr13:23886017-23894837 bp, - strand Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Alliance:	Hfe^tm2Nca page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:78536
Parent Cell Line:	TC1/TC-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A LoxP site flanked neomycin resistance gene cassette replaced a segment of genomic sequence starting in exon 3 and ending in intron 4. (J:78536)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 Hfe Mutation:	35 strains or lines available

References

Original:	J:78536 Levy JE, et al., The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood. 1999 Jul 1;94(1):9-11
All:	47 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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