Phenotypes Associated with This Genotype

Genotype
MGI:3505579

• Allelic Composition: Neurod4^tm1Kag/Neurod4^tm1Kag
• Genetic Background: involves: C57BL/6 * CBA * CD-1

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

mortality/aging

premature death ( J:65410 )

• approximately 50% of homozygotes survive to adulthood but die within 1 year of age

postnatal lethality, incomplete penetrance ( J:65410 )

• over 40% of homozygotes die by 3 weeks of age partly because of a drinking anomaly

behavior/neurological

abnormal drinking behavior ( J:65410 )

• approximately 40% of homozygotes fail to drink milk efficiently and die prior to weaning

ataxia ( J:65410 )

• homozygotes become ataxic as early as 1 week after birth

impaired balance ( J:65410 )

• when placed on a rod, homozygotes fail to remain balanced for >9-10 minutes, whereas wild-type mice stay balanced for ~34 minutes

growth/size/body

decreased body weight ( J:65410 )

• surviving homozygotes display a 40% reduction in body weight relative to wild-type mice

postnatal growth retardation ( J:65410 )

• homozygotes exhibit a progressive growth retardation

nervous system

abnormal cerebellar lobule formation ( J:65410 )

• at P7 and in adulthood, homozygotes exhibit poor lobule formation; the posterior region is more severely affected

abnormal cerebellum external granule cell layer morphology ( J:65410 )

• in the mutant EGL, many precursor cells are TUNEL-positive, indicating cell death

thin cerebellar granule layer ( J:65410 )

thin cerebellar molecular layer ( J:65410 )

absent cerebellar lobules ( J:65410 )

• at P7 and in adulthood, some cerebellar lobules are missing

small cerebellum ( J:65410 )

• at E17.5, the cerebellar anlage of homozygotes contains an EGL and appears normal

• at P7 and in adulthood, the mutant cerebellum size is reduced relative to wild-type; however, no other CNS defects are observed