Ano5^em2Huyi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ano5^em2Huyi
• Name: anoctamin 5; endonuclease-mediated mutation 2, Ying Hu
• MGI ID: MGI:7491944
• Synonyms: Ano5^Cys360Tyr, Ano5^KI
• Gene: Ano5 Location: Chr7:51160777-51248457 bp, + strand Genetic Position: Chr7, 32.76 cM
• Alliance: Ano5^em2Huyi page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 1080 (corresponds to c.1079G>A on GRC39) resulting in a cysteine to tyrosine substitution at amino acid 360 (p.C360Y) in exon 11. This mutation cosegregates with gnathodiaphyseal dysplasia in a Han-Chinese family. (J:336715)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Ano5 Mutation: 67 strains or lines available

References

• Original: J:336715 Li H, et al., Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia. J Bone Miner Res. 2022 Mar;37(3):515-530
• All: 2 reference(s)