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Acp2nax
Spontaneous Allele Detail
Nomenclature
Symbol: Acp2nax
Name: acid phosphatase 2, lysosomal; naked and ataxia
MGI ID: MGI:3574793
Synonyms: nax
Gene: Acp2  Location: Chr2:91202885-91214098 bp, + strand  Genetic Position: Chr2, 50.54 cM
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
Mutation:    Single point mutation
 
Mutation detailsThis allele carries a A to G transition at position 740 in exon 7, causing a glycine to glutamic acid substitution at position 244 of the protein. (J:95958)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 14 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 Acp2 Mutation:  17 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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory