Phenotypes Associated with This Genotype

Genotype
MGI:3716631

• Allelic Composition: Rpgrip1l^tm1Urt/Rpgrip1l^tm1Urt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

perinatal lethality, complete penetrance ( J:122745 )

• embryos die around birth

neonatal lethality, complete penetrance ( J:123018 )

• mice do not survive after birth

embryo

abnormal left-right axis patterning ( J:122745 )

• between E9.5 and E11.5, inverted tail turning is observed in 39% of embryos

abnormal limb bud morphology ( J:122745 )

• at E11.5, limb buds have fewer cilia relative to wild-type; mesenchymal limb cells (MLCs) and mouse embryonic fibroblasts (MEFs) show enhancement of cilia length in culture compared to wild-type cells

broad limb buds ( J:122745 )

• from E12.5, fore- and hindlimb buds have a broadened shape

abnormal neural tube morphology ( J:122745 )

• at E11.5, the neural tube has less cilia relative to wild-type embryos

absent floor plate ( J:122745 )

growth/size/body

cleft upper lip ( J:123018 )

• frequent

heterotaxia ( J:122745 )

• at later stages, embryos show heterotaxia in organ development; some embryos have the stomach positioned to the right

left pulmonary isomerism ( J:122745 )

• all embryos develop only 2 symmetrical lung lobes

craniofacial

abnormal cranium morphology ( J:123018 )

• pronounced round skull

abnormal viscerocranium morphology ( J:122745 )

• nasal tissues are unfused in some embryos

abnormal mandible morphology ( J:122745 )

• mandibular structures are malformed

mandible hypoplasia ( J:123018 )

abnormal maxilla morphology ( J:122745 )

• maxillary tissues are unfused

cleft upper lip ( J:123018 )

• frequent

limbs/digits/tail

abnormal limb bud morphology ( J:122745 )

• at E11.5, limb buds have fewer cilia relative to wild-type; mesenchymal limb cells (MLCs) and mouse embryonic fibroblasts (MEFs) show enhancement of cilia length in culture compared to wild-type cells

broad limb buds ( J:122745 )

• from E12.5, fore- and hindlimb buds have a broadened shape

preaxial polydactyly ( J:122745 , J:123018 )

• fore- and hindlimbs show preaxial polydactyly; there are 2 extra digits on the forelimbs and 1 extra on the hindlimbs (J:122745)

cardiovascular system

dextrocardia ( J:122745 )

• at E9.5, ~19% of embryos show heart looping to right side of body (or randomized looping)

perimembraneous ventricular septal defect ( J:199499 )

• 9 of 27 embryos show perimembranous ventricular septal defects marked by the combination of a significantly thinner muscular part of the ventricular septum and the absence of the membranous part of the VS

muscular ventricular septal defect ( J:199499 )

enlarged pericardium ( J:122745 )

• pericardium is enlarged in most embryos examined at E10.5

respiratory system

left pulmonary isomerism ( J:122745 )

• all embryos develop only 2 symmetrical lung lobes

nervous system

abnormal neural tube morphology ( J:122745 )

• at E11.5, the neural tube has less cilia relative to wild-type embryos

absent floor plate ( J:122745 )

dilated brain ventricle ( J:123018 )

• ventricular dilation

abnormal forebrain morphology ( J:123018 )

absent Rathke's pouch ( J:123018 )

• reduced or absent

small Rathke's pouch ( J:123018 )

• reduced or absent

decreased corpus callosum size ( J:123018 )

• reduced or absent

absent corpus callosum ( J:123018 )

• reduced or absent

absent olfactory bulb ( J:123018 )

• reduced or absent

small olfactory bulb ( J:123018 )

• reduced or absent

cerebellum hypoplasia ( J:123018 )

• in 50% of mice

exencephaly ( J:122745 , J:123018 )

• observed in most embryos examined at E10.5 (J:122745)

liver/biliary system

abnormal bile duct development ( J:123018 )

• at E18.5, ductal plate malformations are apparent and characterized by the presence of several bile ducts surrounding the portal vein

liver fibrosis ( J:123018 )

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:123018 )

• at E18.5, microcystic dilatation of proximal tubules

vision/eye

microphthalmia ( J:122745 , J:123018 )

• embryos have eyes which are reduced in size (J:122745)

• some mice have small, deep set eyes (J:123018)

anophthalmia ( J:123018 )

• some mice have no eyes

skeleton

abnormal cranium morphology ( J:123018 )

• pronounced round skull

abnormal viscerocranium morphology ( J:122745 )

• nasal tissues are unfused in some embryos

abnormal mandible morphology ( J:122745 )

• mandibular structures are malformed

mandible hypoplasia ( J:123018 )

abnormal maxilla morphology ( J:122745 )

• maxillary tissues are unfused

endocrine/exocrine glands

abnormal bile duct development ( J:123018 )

• at E18.5, ductal plate malformations are apparent and characterized by the presence of several bile ducts surrounding the portal vein

absent Rathke's pouch ( J:123018 )

• reduced or absent

small Rathke's pouch ( J:123018 )

• reduced or absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Joubert syndrome 7		DOID:0111002	OMIM:611560	J:123018
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:123018