Phenotypes associated with this allele

• Allele Symbol: Rab23^tm1.1Elkg
• Allele Name: targeted mutation 1.1, Eyleen LK Goh
• Allele ID: MGI:8249197
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Rab23^tm1.1Elkg/Rab23^tm1.1Elkg Tmem163^Tg(ACTB-cre)2Mrt/Tmem163^+	involves: C57BL/6 * FVB/N	MGI:8249276
cn2	Rab23^tm1.1Elkg/Rab23^tm1.1Elkg Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:8249278

Genotype
MGI:8249276

cn1

• 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

Genotype
MGI:8249278

cn2

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

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