Phenotypes associated with this allele

• Allele Symbol: Clp1^em2Slac
• Allele Name: endonuclease-mediated mutation 2, Susan L Ackerman
• Allele ID: MGI:6759437
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clp1^em2Slac/Clp1^em2Slac	C57BL/6J-Clp1^em2Slac/J	MGI:6771476
ht2	Clp1^em1Slac/Clp1^em2Slac	C57BL/6J-Clp1^em1Slac/Clp1^em2Slac	MGI:6771478

Genotype
MGI:6771476

hm1

• Allelic Composition: Clp1^em2Slac/Clp1^em2Slac
• Genetic Background: C57BL/6J-Clp1^em2Slac/J

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

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:311491 )

• no embryos are recovered at E7.5

Genotype
MGI:6771478

ht2

• Allelic Composition: Clp1^em1Slac/Clp1^em2Slac
• Genetic Background: C57BL/6J-Clp1^em1Slac/Clp1^em2Slac

mortality/aging

postnatal lethality, incomplete penetrance ( J:311491 )

• fewer than the expected number of pups are seen at 1-2 weeks of age, but not at P0, indicating increased mortality during the first 2 weeks after birth

growth/size/body

decreased body weight ( J:311491 )

• mice weigh less than wild-type mice at 1 month of age, but not at P14, and are half the weight of wild-type mice at 5 months of age

behavior/neurological

tremors ( J:311491 )

• mice develop a tremor by 1 month of age

impaired coordination ( J:311491 )

• 1-month-old mice perform poorly on the accelerating rotarod test, with a latency to fall of 20% of that of wild-type mice

• 5-month-old mice are incapable of performing the accelerating rotarod test

decreased grip strength ( J:311491 )

• 1-month-old mice exhibit decreased grip strength in the rolling wire-hang test, with no mice reaching the halfway point of the trail in ability to hang from the wire loop

• 5-month-old mice are incapable of performing the rolling wire-hang test

abnormal limb posture ( J:311491 )

• 5-month-old mice exhibit rigid, splayed hindlimbs

abnormal gait ( J:311491 )

• mice develop an altered gait by 1 month of age

decreased locomotor activity ( J:311491 )

• 1-month-old mice are impaired on the treadmill task, with the average mouse walking for less than 1/3 of the time

• 5-month-old mice are incapable of performing the treadmill task

limbs/digits/tail

abnormal autopod morphology ( J:311491 )

• 5-month-old mice exhibit curled forepaws

nervous system

abnormal cerebellar hemisphere morphology ( J:311491 )

• cross-sectional area of the cerebellar hemispheres is decreased at 1 month of age, but not at P14

abnormal cerebellum vermis morphology ( J:311491 )

• cross-sectional area of the vermis is decreased at 1 month of age, but not at P14

abnormal cerebellum dentate nucleus morphology ( J:311491 )

• mice exhibit death of neurons in the deep cerebellar nuclei, with large neurons in the dentate nuclei being 85% less numerous at 5 months of age, but not at P14

• loss of deep cerebellar nuclei neurons in the fastigial and interposed nuclei, with 73% and 79% fewer larger neurons at 5 months of age

cerebellum atrophy ( J:311491 )

motor neuron degeneration ( J:311491 )

• mice show degeneration of spinal cord neurons, having 28% and 45% fewer cervical spinal motor neurons at 3 and 5 months of age, respectively and 14% fewer NeuN+ cells

• however. mice have normal numbers of cervical spinal motor neurons at P14 and 1 month of age

decreased spinal cord size ( J:311491 )

• spinal cord appears smaller

skeleton

kyphosis ( J:311491 )

• severe kyphosis by 5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pontocerebellar hypoplasia type 10		DOID:0060279	OMIM:615803	J:311491