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Chmtm1Jvdh
Targeted Allele Detail
Summary
Symbol: Chmtm1Jvdh
Name: CHM Rab escort protein; targeted mutation 1, Jose A J M van den Hurk
MGI ID: MGI:3052865
Synonyms: Chm-
Gene: Chm  Location: ChrX:111950290-112095214 bp, - strand  Genetic Position: ChrX, 48.94 cM
Alliance: Chmtm1Jvdh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:40673
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 8 was disrupted by the insertion of a neomycin resistance gene in the opposite transcriptional orientation to the endogenous gene. Southern blot confirmed recombination in ES cells. (J:40673)
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: 4 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 Chm Mutation:  14 strains or lines available
References
Original:  J:40673 van den Hurk JA, et al., Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997 Jun;6(6):851-8
All:  3 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
03/19/2024
MGI 6.23
The Jackson Laboratory