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Phenotypes Associated with This Genotype
Genotype
MGI:5429556
Allelic
Composition
PomkGt(OST243203)Lex/PomkGt(OST243203)Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PomkGt(OST243203)Lex mutation (1 available); any Pomk mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired learning/memory shown by trace aversive conditioning
• impaired motor strength shown on inverted screen testing
• decreased sensitivity to pain shown by decreased paw flinching in formalin nociceptive test

cellular
• Purkinje cell neurons occasionally found in the molecular layer
• clusters of external granule neurons scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum

craniofacial
• domed shaped heads of varying severity

nervous system
• Purkinje cell neurons occasionally found in the molecular layer
• clusters of external granule neurons scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum
• hydrocephalus in 4 of 5 mice
• dentate gyrus of the hippocampus has a scalloped apperance
• cerebellar dysplasia in 5 of 5 mice
• multifocal disorganization of cerebellar cortical neurons
• incomplete separation of cerebellar folia
• disorganized cerebral cortex neuronal layers
• Purkinje cell neurons occasionally found in the molecular layer
• clusters of external granule neurons scattered on the surface of the cerebellum and multifocally within the molecular layer of the cerebellum
• impaired sensorimotor gating

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

growth/size/body
• 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


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
03/19/2024
MGI 6.23
The Jackson Laboratory