Phenotypes Associated with This Genotype

Genotype
MGI:4361119

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpa^tm1Tnka/Xpa^tm1Tnka
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

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

mortality/aging

postnatal lethality, complete penetrance ( J:72574 )

• die around 21 days of age

growth/size/body

slow postnatal weight gain ( J:72574 )

• low body weight and size develop after birth

• 40% weight reduction at 2 weeks of age

behavior/neurological

limb grasping ( J:72574 )

• clasp hind limbs when suspended by the tail

tremors ( J:72574 )

ataxia ( J:72574 )

• starting around 1 week of age

• clearly evident at 2 weeks of age

impaired balance ( J:72574 )

• sit with hind limbs spread for balance

• fall down often

abnormal gait ( J:72574 )

• walk with a wide gait

• "waltzing" locomotion

nervous system

decreased cerebellar granule cell precursor proliferation ( J:72574 )

• fewer proliferating external granular cells at 8 days

• significantly increased number of apoptotic cells

abnormal cerebellum development ( J:72574 )

reduced cerebellar foliation ( J:72574 )

• impaired foliation and sulcus formation

decreased brain weight ( J:72574 )

• 20% brain weight reduction at 2 weeks of age

abnormal cerebellar cortex morphology ( J:72574 )

abnormal cerebellar Purkinje cell layer ( J:72574 )

• thin

abnormal Purkinje cell dendrite morphology ( J:72574 )

• dendritic trees are reduced in length

thin cerebellar granule layer ( J:72574 )

thin cerebellar molecular layer ( J:72574 )

small cerebellum ( J:72574 )

• becomes strikingly small

• normal at birth

cellular

decreased cerebellar granule cell precursor proliferation ( J:72574 )

• fewer proliferating external granular cells at 8 days

• significantly increased number of apoptotic cells