Phenotypes associated with this allele

• Allele Symbol: Cbln1os^em1Xis
• Allele Name: endonuclease-mediated mutation 1, Xiaoyuan Song
• Allele ID: MGI:6798141
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cbln1os^em1Xis/Cbln1os^em1Xis	Not Specified	MGI:6802141

Genotype
MGI:6802141

hm1

• Allelic Composition: Cbln1os^em1Xis/Cbln1os^em1Xis
• Genetic Background: Not Specified

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

nervous system

nervous system phenotype ( J:310647 )

N • normal brain weight

N • normal Bergmann glial cell (BGC) numbers in cerebellum at ages P10, P23 and 2 months

abnormal cortical ventricular zone morphology ( J:310647 )

• reduced thickness at ages E12.5 thru 2 months

abnormal rhombic lip morphology ( J:310647 )

• invagination in E12.5 embryo cerebellum

decreased Purkinje cell number ( J:310647 )

• in cerebellum at ages P4, P7, P10, P14, P23 and 2 months

• decreased number of PC precursors and PC clusters in E17.5 embryos

small cerebellum ( J:310647 )

• reduced cerebellum-to-body weight ratio

abnormal CNS glial cell morphology ( J:310647 )

• reduced glial cell (GC) numbers in cerebellum at ages P10, P23 and 2 months

decreased CNS synapse formation ( J:310647 )

• in cerebellar cortex

abnormal synaptic vesicle number ( J:310647 )

• reduced number of SVs in presynaptic terminals

decreased excitatory postsynaptic current amplitude ( J:310647 )

• reduced mEPSC amplitude in cerebellar cortex

decreased excitatory postsynaptic current frequency ( J:310647 )

• reduced mEPSC frequency in cerebellar cortex

abnormal inhibitory postsynaptic currents ( J:310647 )

• reduced mIPSC frequency and amplitude in cerebellar cortex

behavior/neurological

abnormal motor learning ( J:310647 )

• longer time to cross beam in balance beam test

impaired coordination ( J:310647 )

• shorter latency to fall in rotarod test

• longer time to cross beam in balance beam test

growth/size/body

growth/size/body region phenotype ( J:310647 )

N • normal body weight and appearance