Phenotypes associated with this allele

• Allele Symbol: Zbtb18^tm1.1Nda
• Allele Name: targeted mutation 1.1, N Dahmane
• Allele ID: MGI:5425228
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Zbtb18^tm1.1Nda/Zbtb18^tm1.1Nda Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5425229

Genotype
MGI:5425229

cn1

• Allelic Composition: Zbtb18^tm1.1Nda/Zbtb18^tm1.1Nda; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

postnatal lethality ( J:184434 )

• die at about 3 weeks of age

nervous system

increased neuron apoptosis ( J:184434 )

• increased in the neocortex at E16.5, E18.5 and P2

abnormal neuronal migration ( J:184434 )

• widespread deficit in neuronal positioning during cortical plate formation

decreased brain size ( J:184434 )

• striking reduction in brain size

enlarged brain ventricles ( J:184434 )

• at P2

absent corpus callosum ( J:184434 )

• at P2

abnormal cerebral cortex morphology ( J:184434 )

• drastic decrease in cortical size

• small and disorganized at P2

abnormal stratification in cerebral cortex ( J:184434 )

• loss of ER81+ layer V, RORb+ layer IV and cux2+ layers II-IV

• layer V-VI neurons are detectable but fail to distribute properly

thin cerebral cortex ( J:184434 )

• progressive thinning beginning at E15.5

abnormal cerebellar cortex morphology ( J:184434 )

• drastic decrease in cortical size

• small and disorganized at P2

• progressive thinning beginning at E15.5

abnormal nervous system development ( J:184434 )

• increase in gliogenic differentiation

• increase in astrocyte production during early gliogenesis

• coherent and persistent expression of neurogenic genes

abnormal neuron differentiation ( J:184434 )

• general deficit in neuron differentiation

abnormal radial glial cell morphology ( J:184434 )

• expression analysis indicates persistence of early precursors

growth/size/body

decreased body size ( J:184434 )

• visible after 2 weeks of age

cellular

increased neuron apoptosis ( J:184434 )

• increased in the neocortex at E16.5, E18.5 and P2

abnormal neuron differentiation ( J:184434 )

• general deficit in neuron differentiation

abnormal radial glial cell morphology ( J:184434 )

• expression analysis indicates persistence of early precursors

abnormal neuronal migration ( J:184434 )

• widespread deficit in neuronal positioning during cortical plate formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant intellectual developmental disorder		DOID:0060307	OMIM:PS156200	J:184434