Phenotypes Associated with This Genotype

Genotype
MGI:3614947

• Allelic Composition: Pstpip2^cmo/Pstpip2^cmo
• Genetic Background: C.Cg-Pstpip2^cmo/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

limbs/digits/tail

abnormal autopod morphology ( J:104476 )

• hindfeet are severely deformed by 4-6 weeks of age

kinked tail ( J:104476 )

• tail kinks evident by 6-8 weeks of age

hearing/vestibular/ear

abnormal outer ear morphology ( J:104476 )

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

abnormal outer ear cartilage morphology ( J:104476 )

• half of older mice show evidence of cartilage destruction

ear inflammation ( J:104476 )

• dermis and epidermis of outer ear is infiltrated with an inflammatory mediators including polymorphonuclear cells

• some neutrophilic microabcesses are observed

immune system

enlarged spleen ( J:104476 )

• approximately 1.5 times the size of controls

ear inflammation ( J:104476 )

• dermis and epidermis of outer ear is infiltrated with an inflammatory mediators including polymorphonuclear cells

• some neutrophilic microabcesses are observed

abnormal lymph node morphology ( J:104476 )

• lymph nodes contain large populations of transformed cells with features of immunoblasts

osteomyelitis ( J:104476 , J:105410 )

• 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

enlarged spleen ( J:104476 )

• approximately 1.5 times the size of controls

extramedullary hematopoiesis ( J:104476 )

• evidence of extramedullary hematopoiesis in the red pulp of the spleen; may account for increased size of spleen

skeleton

abnormal outer ear cartilage morphology ( J:104476 )

• half of older mice show evidence of cartilage destruction

osteomyelitis ( J:104476 , J:105410 )

• 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

abnormal outer ear morphology ( J:104476 )

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

abnormal outer ear cartilage morphology ( J:104476 )

• half of older mice show evidence of cartilage destruction

integument

deformed nails ( J:104476 )

• thickened, dystrophic hind foot nails

growth/size/body

abnormal outer ear morphology ( J:104476 )

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

abnormal outer ear cartilage morphology ( J:104476 )

• half of older mice show evidence of cartilage destruction

enlarged spleen ( J:104476 )

• 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