Phenotypes Associated with This Genotype

Genotype
MGI:8249276

• Allelic Composition: Rab23^tm1.1Elkg/Rab23^tm1.1Elkg; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: C57BL/6 * FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:371856 )

• mice die postnatally

growth/size/body

fetal growth retardation ( J:371856 )

• growth retardation is seen at E18.5

cellular

abnormal primary cilium morphology ( J:371856 )

• mice show cell-type specific ciliary abnormalities in chondrocytes, mouse embryonic fibroblasts (MEFs), and neocortical neurons, but not in epithelial cells or cerebellar granule cells

• decrease in the number of cells bearing primary cilium in the cerebral cortex, including the Tbr1-expressing cortical intermediate progenitors at E18.5

• chondrocytes show a 16.75% reduction in primary cilia length, although the change in prevalence of ciliation is not seen in E18.5 embryos

• MEFs exhibit unchanged primary cilia length but show a reduced ciliation frequency

• however, normal prevalence of ciliation is seen in Pax6-expressing granule cell precursors in the cerebellar anlage and in E-cadherin-expressing epithelial cells lining the dermal layer

craniofacial

abnormal craniofacial morphology ( J:371856 )

• craniofacial anomalies are seen at E18.5

embryo

abnormal neural tube morphology ( J:371856 )

• E12.5 embryos have an aberrant posterior neural tube

limbs/digits/tail

polysyndactyly ( J:371856 )

• 85.7% prevalence of polysyndactyly is seen at E12.5

nervous system

abnormal neural tube morphology ( J:371856 )

• E12.5 embryos have an aberrant posterior neural tube

abnormal brain morphology ( J:371856 )

• embryos exhibit a range of brain anomalies, varying from mild to severe, at E18.5

abnormal upper rhombic lip morphology ( J:371856 )

• milder cases of brain anomalies include altered pattern of the cerebellar anlage at E18.5

abnormal cerebral cortex morphology ( J:371856 )

• milder cases of brain anomalies display thinning and mis-patterning of the cerebral cortex

thin cerebral cortex ( J:371856 )

• milder cases of brain anomalies display thinning of the cerebral cortex

skeleton

abnormal chondrocyte morphology ( J:371856 )

• chondrocytes show a 16.75% reduction in primary cilia length, although the change in prevalence of ciliation is not seen in E18.5 embryos

vision/eye

abnormal eye morphology ( J:371856 )

• E12.5 embryos have missing or abnormal eyes

anophthalmia ( J:371856 )

• some E12.5 embryos have missing eyes

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