Acp2^nax
Spontaneous Allele Detail

Summary

• Symbol: Acp2^nax
• Name: acid phosphatase 2, lysosomal; naked and ataxia
• MGI ID: MGI:3574793
• Synonyms: nax
• Gene: Acp2 Location: Chr2:91033230-91044443 bp, + strand Genetic Position: Chr2, 50.54 cM
• Alliance: Acp2^nax page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:95958
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: This allele carries a G to A substitution in exon 7, causing a glycine to glutamic acid substitution at position 245 of the protein (p.G245E). (J:95958)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

14 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 Acp2 Mutation: 27 strains or lines available

Notes

This mutation arose in an R1 embryonic stem cell clone during the generation of an unrelated targeted mutation (J:95958).

References

• Original: J:95958 Mannan AU, et al., Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse. Neurogenetics. 2004 Dec;5(4):229-38
• All: 7 reference(s)