Phenotypes Associated with This Genotype

Genotype
MGI:8249278

• Allelic Composition: Rab23^tm1.1Elkg/Rab23^tm1.1Elkg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

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

growth/size/body

obese ( J:371856 )

cellular

abnormal primary cilium morphology ( J:371856 )

• mice show cell-type specific ciliary abnormalities neural progenitor cells and neocortical neurons, but not in hippocampal neurons

• decrease in the number of cells bearing primary cilium in the cerebral cortex, including in NeuN-positive cortical neurons in the adult neocortex

• the majority of cortical neurons in the neocortex lose their primary cilia

• however, the neuronal population in adult hippocampus CA1 region shows a normal number of primary cilia

• primary cortical neurons from P0 cortices exhibit persistently reduced ciliation and shorter cilia throughout an 18-day culture period; neurons show relatively mild ciliary disruptions at DIV 3, with increasingly severe perturbations as neurons develop more projections

• cultured cortical neural progenitor cells exhibit a reduction in the percentage of ciliated cells and shortened cilia length

nervous system

enlarged brain ventricles ( J:371856 )

• mice show enlargement of the brain ventricles

• however, the cerebral cortex appears normal in adults

abnormal cerebellum morphology ( J:371856 )

• adults show cerebellum mis-patterning

abnormal cerebellum lobule morphology ( J:371856 )

• abnormal cerebellar folia formation is seen in adults

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Carpenter syndrome 1		DOID:0061098	OMIM:201000	J:371856