Clcn7^tm1.1Aros
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm1.1Aros
• Name: chloride channel, voltage-sensitive 7; targeted mutation 1.1, Antonio Rossi
• MGI ID: MGI:6287464
• Synonyms: Clcn7^Flox
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm1.1Aros 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 details: Two 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)

Disease models

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: 40 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)