About   Help   FAQ
Clcn7tm1.1Aros
Targeted Allele Detail
Summary
Symbol: Clcn7tm1.1Aros
Name: chloride channel, voltage-sensitive 7; targeted mutation 1.1, Antonio Rossi
MGI ID: MGI:6287464
Synonyms: Clcn7Flox
Gene: Clcn7  Location: Chr17:25352365-25381078 bp, + strand  Genetic Position: Chr17, 12.53 cM, cytoband A3.3
Alliance: Clcn7tm1.1Aros page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:273179
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Conditional ready, Null/knockout)
Mutation:    Insertion
 
Mutation detailsTwo versions of exon 2, a wild-type and an inverted mutated exon 7 with a G to A transition at position 14365G leading to a arginine substation for the glycine at amino acid 213 were introduced in a head-to-head orientation which were flanked by the head-to-head lox71 and loxKR3 sites and separated by an frt-flanked neomycin cassette. This mutation corresponds to the most common mutation, p.Gly215>Arg in patients with ADO2. Flp-mediated recombination removed the neomycin cassette. The mutation can be activated by stable inversion of the two exons mediated by Cre-recombinase. RT-PCR shows that an alternate transcript lacking exons 7-11 is present. If translated, this would result in an in-frame deletion of 129 amino acid residues. (J:273179)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 2 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 Clcn7 Mutation:  42 strains or lines available
References
Original:  J:273179 Capulli M, et al., Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice. PLoS One. 2019;14(3):e0213660
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory