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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
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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: 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)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory