Phenotypes Associated with This Genotype

Genotype
MGI:5498234

• Allelic Composition: Kif7^b2b2254Clo/Kif7^b2b2254Clo
• Genetic Background: C57BL/6J-Kif7^b2b2254Clo

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

Mutant 2254-002-1 (E14.5) has DORV, right aortic arch (RAA), and hypoplastic PA

cardiovascular system

pulmonary artery hypoplasia ( J:175213 )

interrupted aortic arch ( J:175213 )

double outlet right ventricle ( J:175213 )

overriding aortic valve ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

craniofacial

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

limbs/digits/tail

polydactyly ( J:175213 )

• polydactyly with preaxial or postaxial digit duplication

postaxial polydactyly ( J:175213 )

preaxial polydactyly ( J:175213 )

syndactyly ( J:175213 )

nervous system

hydrocephaly ( J:175213 )

exencephaly ( J:175213 )

reproductive system

abnormal reproductive system development ( J:175213 )

• abnormal gonad development

respiratory system

abnormal lung lobe morphology ( J:175213 )

• abnormal lung lobation

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

growth/size/body

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocallosal syndrome		DOID:9250	OMIM:200990	J:175213
ciliopathy		DOID:0060340		J:175213
hydrolethalus syndrome		DOID:0050779	OMIM:PS236680	J:175213