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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pstpip2cmo
chronic multifocal osteomyelitis
MGI:1856595
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pstpip2cmo/Pstpip2cmo C.Cg-Pstpip2cmo/J MGI:3614947
hm2
Pstpip2cmo/Pstpip2cmo C.D2-Qa2 MGI:2663807


Genotype
MGI:3614947
hm1
Allelic
Composition
Pstpip2cmo/Pstpip2cmo
Genetic
Background
C.Cg-Pstpip2cmo/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pstpip2cmo mutation (1 available); any Pstpip2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• hindfeet are severely deformed by 4-6 weeks of age
• tail kinks evident by 6-8 weeks of age

hearing/vestibular/ear
• half of older mice develop erythematous, thickened outer ears with evidence of cartilage destruction
• half of older mice show evidence of cartilage destruction
• dermis and epidermis of outer ear is infiltrated with an inflammatory mediators including polymorphonuclear cells
• some neutrophilic microabcesses are observed

immune system
• approximately 1.5 times the size of controls
• dermis and epidermis of outer ear is infiltrated with an inflammatory mediators including polymorphonuclear cells
• some neutrophilic microabcesses are observed
• lymph nodes contain large populations of transformed cells with features of immunoblasts
• tail sections reveal areas of dead bone surrounded by inflammatory infiltrate, predominantly neutrophils (J:104476)
• spinal and caudal vertebrae are nearly destroyed with a mixed inflammatory infiltrate (J:105410)
• this phenotype is progressive with age and begins at 3-4 weeks of age in distal vertebrae and develops in proximal vertebrae later (J:105410)
• no abnormalities are seen in the long bones of the limbs (J:105410)

hematopoietic system
• approximately 1.5 times the size of controls
• evidence of extramedullary hematopoiesis in the red pulp of the spleen; may account for increased size of spleen

skeleton
• half of older mice show evidence of cartilage destruction
• tail sections reveal areas of dead bone surrounded by inflammatory infiltrate, predominantly neutrophils (J:104476)
• spinal and caudal vertebrae are nearly destroyed with a mixed inflammatory infiltrate (J:105410)
• this phenotype is progressive with age and begins at 3-4 weeks of age in distal vertebrae and develops in proximal vertebrae later (J:105410)
• no abnormalities are seen in the long bones of the limbs (J:105410)

craniofacial
• half of older mice develop erythematous, thickened outer ears with evidence of cartilage destruction
• half of older mice show evidence of cartilage destruction

integument
• thickened, dystrophic hind foot nails

growth/size/body
• half of older mice develop erythematous, thickened outer ears with evidence of cartilage destruction
• half of older mice show evidence of cartilage destruction
• approximately 1.5 times the size of controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chronic recurrent multifocal osteomyelitis DOID:0060645 OMIM:259680
J:104476 , J:105410




Genotype
MGI:2663807
hm2
Allelic
Composition
Pstpip2cmo/Pstpip2cmo
Genetic
Background
C.D2-Qa2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pstpip2cmo mutation (1 available); any Pstpip2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• despite chronic inflammation of the extremities, mice have a normal life span and are fertile

limbs/digits/tail
• hindfeet become red and swollen and are severely deformed by 3 months of age, forefeet are also affected at a lesser extent
• tail kinks evident by 6-8 weeks of age

immune system
• inflammation of the extremities
• phenotype is also penetrant when mice are crossed to BALB/c and CLA mice





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory