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Allele : Atp6v1b2<tm1Yoyu> ATPase, H+ transporting, lysosomal V1 subunit B2; targeted mutation 1, Yongyi Yuan

Primary Identifier  MGI:6358819 Allele Type  Targeted
Attribute String  Null/knockout Gene  Atp6v1b2
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A c.1516C>T substitution was generated to change codon 506 from arginine to a stop codon (p.Arg506Ter). This mutation is found in human dominant deafness-onychodystrophy (DDOD) syndrome patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Atp6v1b2<Arg506X>,
  • Atp6v1b2<Arg506X>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories