All Phenotypes Clp1<tm1.1Pngr> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr	B6.Cg-Clp1^tm1.1Pngr	MGI:5554936
hm2	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr	CBA.Cg-Clp1^tm1.1Pngr	MGI:5554934
hm3	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr	C.Cg-Clp1^tm1.1Pngr	MGI:5554930
hm4	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr	involves: 129P2/OlaHsd * C57BL/6J	MGI:5554933
cx5	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * C57BL/6J	MGI:5554932
cx6	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Tg(Hlxb9-GFP)1Tmj/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA	MGI:5554935
cx7	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Tg(Mnx1-Clp1,-EGFP)#Pngr/0	involves: 129P2/OlaHsd * C57BL/6J	MGI:5554929

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr
Genetic Background	B6.Cg-Clp1^tm1.1Pngr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1^tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:196364 )

• Background Sensitivity: mice on a congenic C57BL/6 background die within hours of birth due to respiratory failure unlike mice on a congenic CBA background

• however, treatment of dams with the reactive oxygen species scavenger N-acetylcysteine (NAC) results in viable pups

nervous system

increased neuron apoptosis ( J:209564 )

• increase in neuronal progenitor cell apoptosis at E16.5 and E18.5

defasiculated phrenic nerve ( J:196364 )

• at E18.5

decreased brain size ( J:209564 )

• decreased brain volume at E18.5 but not at E16.5

• brain size in the dorso-ventral direction decreases between E16.5 and E18.5

decreased brain weight ( J:209564 )

• at E18.5 but not at E16.5

thin cerebral cortex ( J:209564 )

• the main reduction in brain volume is seen in the cortex

abnormal olfactory bulb morphology ( J:209564 )

• decreased volume at E18.5

abnormal phrenic nerve innervation pattern to diaphragm ( J:196364 )

• partial denervation at E16.5

• primary branches mislocalized to the periphery at E18.5

• ventral and dorsal diaphragm denervation at E18.5

• however, innervation at E14.5 is normal and treatment of dams with the reactive oxygen species scavenger N-acetylcysteine (NAC) partially restores innervation in pups

motor neuron degeneration ( J:196364 )

• at E16.5 and E18.5

decreased neuron number ( J:209564 )

• decrease in the number of Tbr+ neurons at E18.5

decreased motor neuron number ( J:196364 )

• reduced ChAT+ motor neurons in the spinal cord at E18.5

abnormal neuromuscular synapse morphology ( J:196364 )

• with undifferentiated axon terminals and smaller acetylcholine receptors clusters than in wild-type mice

respiratory system

respiratory system phenotype ( J:196364 )

N	• mice exhibit normal lung development

respiratory failure ( J:196364 )

behavior/neurological

hyporesponsive to tactile stimuli ( J:196364 )

• in newborn mice

growth/size/body

decreased birth weight ( J:196364 )

microcephaly ( J:209564 )

skeleton

lordosis ( J:196364 )

• in newborns and E18.5 mice

cellular

increased neuron apoptosis ( J:209564 )

• increase in neuronal progenitor cell apoptosis at E16.5 and E18.5

defasiculated phrenic nerve ( J:196364 )

• at E18.5

♀	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) • 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

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr
Genetic Background	C.Cg-Clp1^tm1.1Pngr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1^tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)

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

mortality/aging

lethality, complete penetrance ( J:196364 )

• Background Sensitivity: mice on a congenic BALB/c background exhibit 100% lethality unlike mice on a congenic CBA background

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1^tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)

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

cellular

abnormal cell physiology ( J:196364 )

• mouse embryonic fibroblasts exhibit impaired pre-tRNA processing and accumulation of novel RNA fragments

increased cellular sensitivity to oxidative stress ( J:196364 )

• in mouse embryonic fibroblasts on a hydrogen peroxide and glucose oxidase challenge

oxidative stress ( J:196364 )

• in motor neurons leading to cell death

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1^tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (240 available)

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

mortality/aging

mortality/aging ( J:196364 )

N	• complete rescue of neonatal lethality

neoplasm

increased tumor incidence ( J:196364 )

• as in Trp53^tm1Tyj homozygotes

nervous system

nervous system phenotype ( J:196364 )

N	• mice exhibit normal diaphragm innervation and neuromuscular junction formation

muscle

muscle phenotype ( J:196364 )

N	• young mice exhibit normal muscle strength

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Tg(Hlxb9-GFP)1Tmj/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1^tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)

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

nervous system

decreased motor neuron number ( J:196364 )

• reduced GFP+ neurons at E18.5

Allelic Composition	Clp1^tm1.1Pngr/Clp1^tm1.1Pngr Tg(Mnx1-Clp1,-EGFP)#Pngr/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clp1^tm1.1Pngr mutation (0 available); any Clp1 mutation (22 available)
Tg(Mnx1-Clp1,-EGFP)#Pngr mutation (0 available)

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

mortality/aging

mortality/aging ( J:196364 )

N	• rescue of mortality observed in Clp1^tm1.1Pngr homozygotes

nervous system

nervous system phenotype ( J:196364 )

N	• rescue of motor neuron defects observed on Clp1^tm1.1Pngr homozygotes

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