Clcn7tm1.1Aros
Targeted Allele Detail
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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
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Alliance: |
Clcn7tm1.1Aros page
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Germline Transmission: |
Earliest citation of germline transmission:
J:273179
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Conditional ready, Null/knockout) |
Mutation: |
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Insertion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Clcn7 Mutation: |
42 strains or lines available
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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) |
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