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Pstpip2cmo
Spontaneous Allele Detail
Summary
Symbol: Pstpip2cmo
Name: proline-serine-threonine phosphatase-interacting protein 2; chronic multifocal osteomyelitis
MGI ID: MGI:1856595
Synonyms: cmo
Gene: Pstpip2  Location: Chr18:77882250-77971462 bp, + strand  Genetic Position: Chr18, 52.38 cM, cytoband E3
Alliance: Pstpip2cmo page
Mutation
origin
Strain of Origin:  C.D2-Qa2
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsSequncing revealed a T-to-C transversion at coding nucleotide 293 that results in a highly conserved leucine to be replaced with a proline at amino acid position 98 (p.L98P). (J:104476)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pstpip2 Mutation:  25 strains or lines available
References
Original:  J:1534 Byrd L, et al., Chronic multifocal osteomyelitis, a new recessive mutation on chromosome 18 of the mouse. Genomics. 1991 Dec;11(4):794-8
All:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory