Phenotypes associated with this allele

• Allele Symbol: Unc5c^{rcmTg(Ucp)1.23Kz}
• Allele Name: rostral cerebellar malformation (Tg(Ucp)1.23Kz)
• Allele ID: MGI:1857852
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Unc5c^rcmTg(Ucp)1.23Kz/Unc5c^rcmTg(Ucp)1.23Kz	B6.Cg-Unc5c^rcmTg(Ucp)1.23Kz	MGI:3665464
hm2	Unc5c^rcmTg(Ucp)1.23Kz/Unc5c^rcmTg(Ucp)1.23Kz	involves: C57BL/6J * SJL/J	MGI:2446453
cx3	Dcc^tm1Wbg/Dcc^+ Unc5c^rcmTg(Ucp)1.23Kz/Unc5c^rcmTg(Ucp)1.23Kz	involves: 129X1/SvJ * C57BL/6J * SJL/J	MGI:3665460
cx4	Dcc^tm1Wbg/Dcc^+ Unc5c^rcmTg(Ucp)1.23Kz/Unc5c^+	involves: 129X1/SvJ * C57BL/6J * SJL/J	MGI:3665461

Genotype
MGI:3665464

hm1

• Allelic Composition: Unc5c^{rcmTg(Ucp)1.23Kz}/Unc5c^{rcmTg(Ucp)1.23Kz}
• Genetic Background: B6.Cg-Unc5c^{rcmTg(Ucp)1.23Kz}

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

mortality/aging

preweaning lethality, complete penetrance ( J:109043 )

• Background Sensitivity: a decrease in number surviving to weaning compared to homozygotes on a mixed C57BL/6J and SJL/J background is seen after 3 generations of backcrosses

• after 10 generations of backcrosses to C57BL/6J, no mice survive to weaning

nervous system

abnormal trochlear nerve morphology ( J:109043 )

• the trochlear nerve projects ventrally rather than dorsally and some of the axons exit the CNS ipsilaterally rather than contralaterally

• Background Sensitivity: all mice have abnormalities in at least 1 trochlear nerve on an inbred C57BL/6J background compared to only 2 of 5 mice on a mixed C57BL/6J and SJL/J background

abnormal phrenic nerve morphology ( J:109043 )

• reduced diameter proximal to the point of contact with the diaphragm

• reduction in diameter correlates to the reduction in diaphragm innervation

• the number of axons in the phrenic nerve is significantly reduced

abnormal phrenic nerve innervation pattern to diaphragm ( J:109043 )

• at E18.5 from 30 to 75% of the diaphragm is uninnervated by motor neurons

• absence of innervation ranges from complete and unilateral to partial and bilateral

• however, motor neuron innervation of intercostal muscles and sensory neuron innervation around the lateral edge of the diaphragm appear normal

• areas lacking innervation do not appear to have ever been in contact with motor neurons

• Background Sensitivity: penetrance and severity of the defect in diaphragm motor neuron innervation are increased on an inbred C57BL/6J background compared to a mixed C57BL/6J and SJL/J background

Genotype
MGI:2446453

hm2

• Allelic Composition: Unc5c^{rcmTg(Ucp)1.23Kz}/Unc5c^{rcmTg(Ucp)1.23Kz}
• Genetic Background: involves: C57BL/6J * SJL/J

mortality/aging

mortality/aging ( J:109043 )

N • Background Sensitivity: no difference from the expected number of homozygotes is detected at weaning unlike in mice crossed for 10 generations to C57BL/6J where no homozygotes survive to weaning

behavior/neurological

ataxia ( J:40243 )

nervous system

abnormal cerebellum development ( J:40243 , J:45577 )

• an abnormal band of granule cells extends from the cerebellum into the inferior colliculus (J:40243)

• partial fusion of the inferior colliculus to the rostral cerebellum (J:40243)

• ectopic subpial cell populations identical to those in Unc5c^rcm homozygotes are seen (J:45577)

abnormal cerebellar lobule formation ( J:40243 )

• only 5 lobes are formed

• vermal fissure formation is also abnormal in the lateral cerebral hemisphere

reduced cerebellar foliation ( J:40243 )

• a reduction in size and number of folia is seen in midline sagital sections

abnormal cerebellum external granule cell layer morphology ( J:40243 )

• abnormal external granule cell migration with cells migrating in cohorts rather than as single cells

• these abnormal groups of cells are often associated with gaps in the Purkinje cell layer

abnormal pyramidal decussation morphology ( J:80430 )

• the pyramidal decussation is thinner but present

abnormal inferior colliculus morphology ( J:40243 )

• an abnormal band of granule cells extends from the cerebellum into the inferior colliculus

• partial fusion of the inferior colliculus to the rostral cerebellum with ectopic granule and Purkinje cells in the inferior colliculus and tegmentum of the midbrain

abnormal cerebellar Purkinje cell layer ( J:40243 )

• abnormal groups of migrating granule cells are associated with gaps in the Purkinje cell layer

ectopic Purkinje cell ( J:40243 , J:45577 )

• in the inferior colliculus and tegmentum of the midbrain (J:40243)

• in the inferior colliculus and pontine area at P7 (J:45577)

ectopic cerebellar granule cells ( J:40243 , J:45577 )

• an abnormal band of granule cells extends from the cerebellum into the inferior colliculus (J:40243)

• in the inferior colliculus and pontine area at P7 (J:45577)

small cerebellum ( J:40243 )

• more pronounced than in Unc5c^rcm homozygotes

abnormal innervation pattern to muscle ( J:109043 )

• Background Sensitivity: penetrance and severity of the defect in diaphragm motor neuron innervation are decreased on a mixed mixed C57BL/6J and SJL/J background compared to an inbred C57BL/6J background

abnormal corticospinal tract morphology ( J:80430 )

• expression analysis indicates the absence of the corticospinal tract in the dorsal funiculus

• just before the decussation the pyramidal tract broadens and at the decussation 2 bundles of axons form with some but not all axons crossing the midline

• most axons that cross the midline fail to enter the dorsal funiculus and are instead found in the adjacent dorsal gray matter and just into the white matter of the contralateral lateral funiculus of the cervical and thoracic spinal cord

• axons that fail to cross the midline follow an ipsilateral path into the lateral funiculus

abnormal trochlear nerve morphology ( J:109043 )

• Background Sensitivity: only 2 of 5mice have abnormalities in at least 1 trochlear nerve on a mixed C57BL/6J and SJL/J background while abnormalities are seen in all mice on an inbred C57BL/6J background

abnormal spinal cord dorsal column morphology ( J:80430 )

• the dorsal funiculus is smaller and its ventral aspect appears shorter and thinner

• expression analysis indicates the absence of the corticospinal tract in the dorsal funiculus

Genotype
MGI:3665460

cx3

• Allelic Composition: Dcc^tm1Wbg/Dcc⁺; Unc5c^{rcmTg(Ucp)1.23Kz}/Unc5c^{rcmTg(Ucp)1.23Kz}
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL/J

nervous system

abnormal axon guidance ( J:80430 )

• some axons fail to cross the midline at the pyramidal decussation and instead extend into the lateral and ventral funiculus

cellular

abnormal axon guidance ( J:80430 )

• some axons fail to cross the midline at the pyramidal decussation and instead extend into the lateral and ventral funiculus

Genotype
MGI:3665461

cx4

• Allelic Composition: Dcc^tm1Wbg/Dcc⁺; Unc5c^{rcmTg(Ucp)1.23Kz}/Unc5c⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL/J

nervous system

abnormal axon guidance ( J:80430 )

• a few axons fail to cross the midline at the pyramidal decussation and instead extend into the ventral funiculus of the cervical spinal cord

cellular

abnormal axon guidance ( J:80430 )

• a few axons fail to cross the midline at the pyramidal decussation and instead extend into the ventral funiculus of the cervical spinal cord