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Allele : Clcn7<tm1.1Teti> chloride channel, voltage-sensitive 7; targeted mutation 1.1, Anna Teti

Primary Identifier  MGI:5563089 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Clcn7
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 7 with a G to A transition at position 14365 resulting in a glycine to arginine amino acid substitution at position 213 (G213R), mimicking a dominant mutation found in autosomal dominant osteopetrosis type 2 (ADO2) patients, was flanked by loxP sites. An frt flanked neo cassette was inserted downstream of exon 7 and was removed by flp mediated recombination.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • L'Aquila,
  • L'Aquila
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele