Phenotypes Associated with This Genotype

Genotype
MGI:5429556

• Allelic Composition: Pomk^{Gt(OST243203)Lex}/Pomk^{Gt(OST243203)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

behavior/neurological

impaired cued conditioning behavior ( J:185566 )

• impaired learning/memory shown by trace aversive conditioning

tremors ( J:185566 )

decreased grip strength ( J:185566 )

• impaired motor strength shown on inverted screen testing

increased chemical nociceptive threshold ( J:185566 )

• decreased sensitivity to pain shown by decreased paw flinching in formalin nociceptive test

cellular

abnormal neuronal migration ( J:185566 )

abnormal Purkinje cell migration ( J:185566 )

• Purkinje cell neurons occasionally found in the molecular layer

abnormal cerebellar granule cell migration ( J:185566 )

• clusters of external granule neurons scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum

craniofacial

abnormal head shape ( J:185566 )

• domed shaped heads of varying severity

nervous system

abnormal neuronal migration ( J:185566 )

abnormal Purkinje cell migration ( J:185566 )

• Purkinje cell neurons occasionally found in the molecular layer

abnormal cerebellar granule cell migration ( J:185566 )

• clusters of external granule neurons scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum

hydrocephaly ( J:185566 )

• hydrocephalus in 4 of 5 mice

abnormal dentate gyrus morphology ( J:185566 )

• dentate gyrus of the hippocampus has a scalloped apperance

abnormal cerebellum morphology ( J:185566 )

• cerebellar dysplasia in 5 of 5 mice

abnormal cerebellar cortex morphology ( J:185566 )

• multifocal disorganization of cerebellar cortical neurons

abnormal cerebellar foliation ( J:185566 )

• incomplete separation of cerebellar folia

abnormal cerebellar layer morphology ( J:185566 )

• disorganized cerebral cortex neuronal layers

ectopic Purkinje cell ( J:185566 )

• Purkinje cell neurons occasionally found in the molecular layer

ectopic cerebellar granule cells ( J:185566 )

• clusters of external granule neurons scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum

reduced sensorimotor gating ( J:185566 )

• impaired sensorimotor gating

decreased prepulse inhibition ( J:185566 )

reproductive system

male infertility ( J:185566 )

♂ • male infertility was seen in one surviving mouse; normal looking sperm were present in testes and epididymis

growth/size/body

abnormal head shape ( J:185566 )

• domed shaped heads of varying severity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hydrocephalus		DOID:10908	OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219	J:185566