Phenotypes Associated with This Genotype

Genotype
MGI:5309129

• Allelic Composition: Cplane1^b2b012Clo/Cplane1^b2b012Clo
• Genetic Background: C57BL/6J-Cplane1^b2b012Clo

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

Mutant 012-029-NB has RAA, DORV, and pulmonary stenosis

cardiovascular system

pulmonary artery hypoplasia ( J:175213 )

right aortic arch ( J:175213 , J:223340 )

abnormal heart morphology ( J:223340 )

persistent truncus arteriosus ( J:223340 )

• in a third of mice

double outlet right ventricle ( J:175213 , J:223340 )

• in most mice (J:223340)

common atrium ( J:175213 )

atrioventricular septal defect ( J:223340 )

• in a third of mice

complete atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:223340 )

• in most mice

muscular ventricular septal defect ( J:223340 )

• in some mice

pulmonary valve atresia ( J:175213 , J:223340 )

• atresia/stenosis in half of mice (J:223340)

pulmonary valve stenosis ( J:223340 )

• atresia/stenosis in half of mice

atrioventricular valve regurgitation ( J:223340 )

aortic valve regurgitation ( J:223340 )

cellular

abnormal primary cilium morphology ( J:223340 )

• reduced primary cilia in the cerebellum

abnormal nonmotile primary cilium morphology ( J:223340 )

• reduced ciliation in mouse embryonic fibroblasts

abnormal renal tubule epithelial cell primary cilium morphology ( J:223340 )

• fewer and shorter cilia than in wild-type mice

craniofacial

mandible hypoplasia ( J:223340 )

micrognathia ( J:223340 )

abnormal turbinate morphology ( J:223340 )

• with abnormal branching pattern

cleft upper lip ( J:223340 )

cleft palate ( J:175213 )

bilateral cleft palate ( J:223340 )

• with bilateral clefting in some mice

abnormal tongue morphology ( J:223340 )

• abnormal tongue shape and position

abnormal tongue position ( J:223340 )

embryo

embryonic growth retardation ( J:223340 )

digestive/alimentary system

cleft palate ( J:175213 )

bilateral cleft palate ( J:223340 )

• with bilateral clefting in some mice

abnormal tongue morphology ( J:223340 )

• abnormal tongue shape and position

abnormal tongue position ( J:223340 )

abnormal intestine development ( J:223340 )

• intestinal atresia where only a short segment of the small intestine forms in some mice

absent colon ( J:223340 )

• in some mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:223340 )

N • mice exhibit normal stereocilia in the cochlea

limbs/digits/tail

polydactyly ( J:175213 , J:223340 )

preaxial polydactyly ( J:223340 )

• in some mice

homeostasis/metabolism

hydrops fetalis ( J:223340 )

• severe

impaired wound healing ( J:223340 )

• in a wound scratch assay, mouse embryonic fibroblasts exhibit randomized cell orientation without alignment with the direction of the would closure unlike wild-type mice

mortality/aging

prenatal lethality, incomplete penetrance ( J:223340 )

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:223340 )

• fewer and shorter cilia than in wild-type mice

kidney cyst ( J:175213 , J:223340 )

• numerous small cysts (J:223340)

dilated renal tubule ( J:223340 )

• in the nephrons

duplex kidney ( J:175213 , J:223340 )

nervous system

decreased brain size ( J:223340 )

abnormal cerebellum morphology ( J:223340 )

• with reduced number of fissures

respiratory system

abnormal turbinate morphology ( J:223340 )

• with abnormal branching pattern

pulmonary hypoplasia ( J:175213 , J:223340 )

• in mice with milder phenotypes (J:223340)

skeleton

mandible hypoplasia ( J:223340 )

micrognathia ( J:223340 )

abnormal turbinate morphology ( J:223340 )

• with abnormal branching pattern

decreased length of long bones ( J:223340 )

abnormal thoracic cage morphology ( J:223340 )

• absent in some mice

abnormal sternum morphology ( J:175213 )

• sternal bone malalignment

misaligned sternebrae ( J:223340 )

• in half of mice

split sternum ( J:223340 )

• unfused in some mice

abnormal vertebrae morphology ( J:223340 )

• butterfly

growth/size/body

abnormal turbinate morphology ( J:223340 )

• with abnormal branching pattern

cleft upper lip ( J:223340 )

cleft palate ( J:175213 )

bilateral cleft palate ( J:223340 )

• with bilateral clefting in some mice

abnormal tongue morphology ( J:223340 )

• abnormal tongue shape and position

abnormal tongue position ( J:223340 )

embryonic growth retardation ( J:223340 )

decreased birth body size ( J:223340 )

kidney cyst ( J:175213 , J:223340 )

• numerous small cysts (J:223340)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Joubert syndrome 17		DOID:0110986	OMIM:614615	J:223340