Atp6v1b2^tm1Yoyu
Targeted Allele Detail

Summary

• Symbol: Atp6v1b2^tm1Yoyu
• Name: ATPase, H+ transporting, lysosomal V1 subunit B2; targeted mutation 1, Yongyi Yuan
• MGI ID: MGI:6358819
• Synonyms: Atp6v1b2^Arg506X
• Gene: Atp6v1b2 Location: Chr8:69541388-69566370 bp, + strand Genetic Position: Chr8, 33.88 cM
• Alliance: Atp6v1b2^tm1Yoyu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:278514
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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. (J:278514)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Atp6v1b2 Mutation: 44 strains or lines available

References

• Original: J:278514 Zhao W, et al., A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. EBioMedicine. 2019 Jul;45:408-421
• All: 2 reference(s)