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Allele : Clcn7<tm1.1Mjec> chloride channel, voltage-sensitive 7; targeted mutation 1.1, Michael J Econs

Primary Identifier  MGI:5563124 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Clcn7
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  A loxP sites flanked second copy of exon 6 with an inserted stop codon, a neomycin resistance gene flanked by loxP sites in intron 5, and an 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) in humans were inserted. The extra exon 6 and the PKG-neo cassette were removed via cre-mediated recombination by mating with Ella-Cre transgenic mice leaving the G213R mutation in exon 7.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Clcn7<G213R>,
  • Indiana,
  • Indiana,
  • Clcn7<G213R>
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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

7 Publication categories

Trail: Allele