Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Acp2nax
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:	Acp2nax page

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+

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

14 anatomical structure(s)

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

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)