Phenotypes Associated with This Genotype

Genotype
MGI:5554934

• Allelic Composition: Clp1^tm1.1Pngr/Clp1^tm1.1Pngr
• Genetic Background: CBA.Cg-Clp1^tm1.1Pngr

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

mortality/aging

mortality/aging ( J:196364 )

N • Background Sensitivity: viable pups are obtained on a congenic CBA background unlike on a congenic C57BL/6 or BALB/c background

premature death ( J:196364 )

• mice begin to die 23 weeks after birth

nervous system

nervous system phenotype ( J:196364 , J:209564 )

N • sensory neurons exhibit normal morphology and outgrowth (J:196364)

N • cerebellar neuronal, microglial, and astrocyte numbers and distributions are similar to controls (J:209564)

abnormal microglial cell morphology ( J:209564 )

• increase in the number of microglial cells in the neocortex

decreased brain size ( J:209564 )

• reduced brain volumes at 8, 12 and 28 weeks of age but not at 4 weeks of age

decreased brain weight ( J:209564 )

• in adults

thin cerebral cortex ( J:209564 )

• markedly reduced cortical thickness throughout the entire cortex

• the reduction is particularly prominent in the frontal and somatosensory-motor areas of the cortex

abnormal axon morphology ( J:196364 )

• fewer large diameter fibers

• however, the number of smaller fibers is normal

decreased neuron number ( J:209564 )

• decrease in the numbers of neuronal nuclear antigen positive neurons in the neocortex

decreased motor neuron number ( J:196364 )

• reduced ChAT+ spinal motor neurons at 4 months

• however, neonates have normal numbers of spinal motor neurons

abnormal neuromuscular synapse morphology ( J:196364 )

abnormal sciatic nerve morphology ( J:196364 )

• degeneration of the sciatic nerve

axon degeneration ( J:196364 )

• axonopathy in peripheral nerves

behavior/neurological

behavior/neurological phenotype ( J:196364 )

N • response to noxious heat, mechanical stimulation and capsaicin-induced pain is normal

abnormal motor coordination/balance ( J:196364 )

• progressively impaired motor function

ataxia ( J:196364 )

impaired balance ( J:196364 )

• on a fixed and accelerating rotarod

abnormal gait ( J:196364 )

• altered walking stride

paralysis ( J:196364 )

• in older mice

muscle

skeletal muscle atrophy ( J:196364 )

• slow-twitch muscles are less affected than fast-twitch muscles

progressive muscle weakness ( J:196364 )

growth/size/body

microcephaly ( J:209564 )

hematopoietic system

abnormal microglial cell morphology ( J:209564 )

• increase in the number of microglial cells in the neocortex

immune system

abnormal microglial cell morphology ( J:209564 )

• increase in the number of microglial cells in the neocortex

cellular

maternal effect ( J:196364 )

• Background Sensitivity: mice on a congenic CBA background born to older dams are more prone to die at birth than pups born to younger dams unlike mice on other congenic backgrounds

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pontocerebellar hypoplasia type 10		DOID:0060279	OMIM:615803	J:209564