Phenotypes associated with this allele

• Allele Symbol: Ift172^avc1
• Allele Name: atrioventricular canal 1
• Allele ID: MGI:4821824
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ift172^avc1/Ift172^avc1	involves: C57BL/6J	MGI:5290081
hm2	Ift172^avc1/Ift172^avc1	involves: C57BL/6J * FVB/N	MGI:4822142
ht3	Ift172^avc1/Ift172^wim	involves: C57BL/6J	MGI:5290082

Genotype
MGI:5290081

hm1

• Allelic Composition: Ift172^avc1/Ift172^avc1
• Genetic Background: involves: C57BL/6J

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

mortality/aging

perinatal lethality, complete penetrance ( J:175371 )

• die at birth

cardiovascular system

cardiovascular system phenotype ( J:175371 )

N • no cardiac looping abnormalities are detected

atrioventricular septal defect ( J:175371 )

• atrioventricular septal defect with a common atrium at E14.5

nervous system

hydrocephaly ( J:175371 )

• in 4 of 5 mice

enlarged brain ventricles ( J:175371 )

• ventriculomegaly at P0

digestive/alimentary system

cleft secondary palate ( J:175371 )

• at P0

anal atresia ( J:175371 )

• anal atresia with discontinuity between the squamous epithelium of the anus and the columnar epithelium of the distal rectum at E14.5

esophageal atresia ( J:175371 )

• in 1 mouse at E14.5

esophagus stenosis ( J:175371 )

• in 1 mouse at E14.5

esophagus hypoplasia ( J:175371 )

• at E14.5

respiratory system

abnormal trachea morphology ( J:175371 )

• enlarged and abnormal at E14.5

• cystic trachea in 1 mouse

craniofacial

cleft secondary palate ( J:175371 )

• at P0

short snout ( J:175371 )

limbs/digits/tail

preaxial polydactyly ( J:175371 )

• of the forelimbs and hindlimbs

short humerus ( J:175371 )

short radius ( J:175371 )

short ulna ( J:175371 )

short femur ( J:175371 )

short fibula ( J:175371 )

short tibia ( J:175371 )

renal/urinary system

abnormal kidney morphology ( J:175371 )

• dysplastic at E14.5 in 4 of 9 mice

abnormal renal glomerulus morphology ( J:175371 )

• hypoplastic at E14.5 in 4 of 9 mice

cellular

abnormal cilium morphology ( J:175371 )

• decrease in the percentage of MEFs with cilia compared to wild-type MEFs

• decreased cilia length on MEFs and the population of cilia is divided between full length and truncated cilia

abnormal motile primary cilium morphology ( J:175371 )

• decreased mean ventral node cilia length at E7.5

embryo

abnormal motile primary cilium morphology ( J:175371 )

• decreased mean ventral node cilia length at E7.5

skeleton

decreased length of long bones ( J:175371 )

• at P0

short humerus ( J:175371 )

short radius ( J:175371 )

short ulna ( J:175371 )

short femur ( J:175371 )

short fibula ( J:175371 )

short tibia ( J:175371 )

growth/size/body

cleft secondary palate ( J:175371 )

• at P0

short snout ( J:175371 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:175371

Genotype
MGI:4822142

hm2

• Allelic Composition: Ift172^avc1/Ift172^avc1
• Genetic Background: involves: C57BL/6J * FVB/N

mortality/aging

perinatal lethality ( J:163196 )

cardiovascular system

increased heart atrium size ( J:163196 )

• bilateral

complete atrioventricular septal defect ( J:163196 )

• mice develop complete atrioventricular septal defects

increased heart ventricle size ( J:163196 )

• bilateral

limbs/digits/tail

preaxial polydactyly ( J:163196 )

• bilaterally, and on fore- and hindlimbs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:163196

Genotype
MGI:5290082

ht3

• Allelic Composition: Ift172^avc1/Ift172^wim
• Genetic Background: involves: C57BL/6J

embryo

abnormal motile primary cilium morphology ( J:175371 )

• severely decreased mean ventral node cilia length at E7.5

cellular

abnormal cilium morphology ( J:175371 )

• decrease in the percentage of MEFs with cilia compared to wild-type MEFs

• severely decreased cilia length on MEFs with a large population of truncated cilia and a much smaller population of full length cilia

abnormal motile primary cilium morphology ( J:175371 )

• severely decreased mean ventral node cilia length at E7.5

cardiovascular system

abnormal cardiovascular system morphology ( J:175371 )

• cardiac abnormalities

craniofacial

abnormal craniofacial morphology ( J:175371 )

• craniofacial abnormalities

limbs/digits/tail

abnormal limb morphology ( J:175371 )

• limb abnormalities