Phenotypes Associated with This Genotype

Genotype
MGI:5558101

• Allelic Composition: Wdpcp^cys40/Wdpcp^cys40
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

abnormal truncus arteriosus septation ( J:205269 )

• single common trunk

• incomplete septum unevenly dividing the outflow tract into one large and one small chamber

persistent truncus arteriosus ( J:205269 )

abnormal heart development ( J:205269 )

• cardiomyocytes fail to invade the outflow tract cushion at E13.5 and cardiomyocytes do not exhibit polarized cell projections

atrioventricular septal defect ( J:205269 )

pulmonary valve atresia ( J:205269 )

cellular

abnormal cilium morphology ( J:205269 )

• ciliogenesis defects in MEFs

• only rarely do MEFs have cilia

abnormal kinocilium morphology ( J:205269 )

• kinocilia are present but mislocalized

abnormal cell physiology ( J:205269 )

• MEFs display minimal membrane ruffling activity and often have unusually long and thin filopodial extensions that appear unable to disengage from the substratum

impaired fibroblast cell migration ( J:205269 )

• impaired polarized migration of MEFs in a wound scratch assay

abnormal podocyte motility ( J:205269 )

• decrease in the size of focal adhesion contacts and defects in cell motility and direction of cell migration in MEFs

digestive/alimentary system

cleft palate ( J:205269 )

• in some mice

tracheoesophageal fistula ( J:205269 )

• due to defects in septation of the oropharynx

abnormal intestine morphology ( J:205269 )

• intestinal cysts

renal/urinary system

abnormal podocyte motility ( J:205269 )

• decrease in the size of focal adhesion contacts and defects in cell motility and direction of cell migration in MEFs

kidney cyst ( J:205269 )

renal glomerulus cyst ( J:205269 )

abnormal kidney collecting duct morphology ( J:205269 )

• ciliogenesis defects with few cilia detected at E15.5

duplex kidney ( J:205269 )

• in some mice

embryo

embryo phenotype ( J:205269 )

N • motile cilia on the embryonic node are similar to controls

abnormal septation of the cloaca ( J:205269 )

• septation defect with abnormal connection between the intestine and bladder

abnormal embryonic neuroepithelium morphology ( J:205269 )

• ciliogenesis defects with fewer cilia present at E10.5

vision/eye

anophthalmia ( J:205269 )

limbs/digits/tail

polydactyly ( J:205269 )

• central

hearing/vestibular/ear

abnormal kinocilium morphology ( J:205269 )

• kinocilia are present but mislocalized

abnormal cochlear hair cell morphology ( J:205269 )

• hair cells are disarrayed with some of the chevron misaligned

nervous system

abnormal kinocilium morphology ( J:205269 )

• kinocilia are present but mislocalized

abnormal embryonic neuroepithelium morphology ( J:205269 )

• ciliogenesis defects with fewer cilia present at E10.5

abnormal cochlear hair cell morphology ( J:205269 )

• hair cells are disarrayed with some of the chevron misaligned

respiratory system

respiratory system phenotype ( J:205269 )

N • motile cilia in the trachea airway epithelium are similar to controls

tracheoesophageal fistula ( J:205269 )

• due to defects in septation of the oropharynx

craniofacial

cleft palate ( J:205269 )

• in some mice

facial cleft ( J:205269 )

• in some mice

growth/size/body

cleft palate ( J:205269 )

• in some mice

facial cleft ( J:205269 )

• in some mice

kidney cyst ( J:205269 )

renal glomerulus cyst ( J:205269 )