Phenotypes Associated with This Genotype

Genotype
MGI:6388425

• Allelic Composition: Wdr62^tm1.1Jfch/Wdr62^tm1.1Jfch
• Genetic Background: involves: 129S1/SvImJ * C57BL/6N

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

cellular

abnormal primary cilium morphology ( J:282438 )

• slight, but significant, increase in the median length of primary cilia in neural progenitor cells

• slight increase in cilium number in the cerebral cortex

• while MEFs show normal cilium assembly, MEFs show an increase in cilium length at 24 hours after serum re-addition and an increase in the percentage of ciliated MEFs after serum re-addition, indicating a delay in cilium disassembly

abnormal cell cycle ( J:282438 )

• MEFs show delayed cell cycle re-entry after growth stimulation

• neural progenitor cells exhibit an increase in cell cycle length and a decrease in S-phase length indicating disrupted cell cycle progression

increased forebrain apoptosis ( J:282438 )

• increase in apoptotic cells in the cortex

premature neuronal precursor differentiation ( J:282438 )

• neural progenitor cells show precocious cell cycle exit indicating premature differentiation

decreased cell proliferation ( J:282438 )

• MEFs grown in culture stimulated for cell cycle re-entry show a decrease in the percentage of EdU+ cells

nervous system

increased forebrain apoptosis ( J:282438 )

• increase in apoptotic cells in the cortex

premature neuronal precursor differentiation ( J:282438 )

• neural progenitor cells show precocious cell cycle exit indicating premature differentiation

decreased brain size ( J:282438 )

• smaller brain size is seen at E18.5 and P30 with mice showing mild microcephaly

decreased brain weight ( J:282438 )

• decrease in brain weight is detected at E18.5

abnormal neocortex size ( J:282438 )

• decrease in neocortical radial thickness

decreased neuronal precursor cell number ( J:282438 )

• numbers of Pax6+ apical neural progenitor cells and Tbr2+ intermediate progenitor cells are decreased at E16.5 and E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary autosomal recessive microcephaly 2 with or without cortical malformations		DOID:0070293	OMIM:604317	J:282438