About   Help   FAQ
Atp6v1b2tm1Yoyu
Targeted Allele Detail
Nomenclature
Symbol: Atp6v1b2tm1Yoyu
Name: ATPase, H+ transporting, lysosomal V1 subunit B2; targeted mutation 1, Yongyi Yuan
MGI ID: MGI:6358819
Synonyms: Atp6v1b2Arg506X
Gene: Atp6v1b2  Location: Chr8:69088736-69113718 bp, + strand  Genetic Position: Chr8, 33.88 cM
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 detailsA 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  10 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/05/2019
MGI 6.14
The Jackson Laboratory