Atp6v1h^em1Xhd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Atp6v1h^em1Xhd
• Name: ATPase, H+ transporting, lysosomal V1 subunit H; endonuclease-mediated mutation 1, Xiaohong Duan
• MGI ID: MGI:5828914
• Gene: Atp6v1h Location: Chr1:5153201-5233438 bp, + strand Genetic Position: Chr1, 1.85 cM
• Alliance: Atp6v1h^em1Xhd page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: CRISPR/Cas technology targeting exon 2 deleted 5 bp (CGAGG) and replaced 1 bp (T to G). These mutations resulted in a premature stop codon. (J:239439)

Expression

In Structures Affected by this Mutation:

3 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 Atp6v1h Mutation: 28 strains or lines available

References

• Original: J:239439 Duan X, et al., Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-beta1 Pathway. Theranostics. 2016;6(12):2183-2195
• All: 3 reference(s)