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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ift172avc1
atrioventricular canal 1
MGI:4821824
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ift172avc1/Ift172avc1 involves: C57BL/6J MGI:5290081
hm2
Ift172avc1/Ift172avc1 involves: C57BL/6J * FVB/N MGI:4822142
ht3
Ift172avc1/Ift172wim involves: C57BL/6J MGI:5290082


Genotype
MGI:5290081
hm1
Allelic
Composition
Ift172avc1/Ift172avc1
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift172avc1 mutation (0 available); any Ift172 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die at birth (J:175371)
• die at birth (J:175371)

cardiovascular system
N
• no cardiac looping abnormalities are detected (J:175371)
• no cardiac looping abnormalities are detected (J:175371)
• atrioventricular septal defect with a common atrium at E14.5 (J:175371)
• atrioventricular septal defect with a common atrium at E14.5 (J:175371)

nervous system
• in 4 of 5 mice (J:175371)
• in 4 of 5 mice (J:175371)
• ventriculomegaly at P0 (J:175371)
• ventriculomegaly at P0 (J:175371)

digestive/alimentary system
• at P0 (J:175371)
• at P0 (J:175371)
• anal atresia with discontinuity between the squamous epithelium of the anus and the columnar epithelium of the distal rectum at E14.5 (J:175371)
• anal atresia with discontinuity between the squamous epithelium of the anus and the columnar epithelium of the distal rectum at E14.5 (J:175371)
• in 1 mouse at E14.5 (J:175371)
• in 1 mouse at E14.5 (J:175371)
• in 1 mouse at E14.5 (J:175371)
• in 1 mouse at E14.5 (J:175371)
• at E14.5 (J:175371)
• at E14.5 (J:175371)

respiratory system
• enlarged and abnormal at E14.5 (J:175371)
• cystic trachea in 1 mouse (J:175371)
• enlarged and abnormal at E14.5 (J:175371)
• cystic trachea in 1 mouse (J:175371)

craniofacial
• at P0 (J:175371)
• at P0 (J:175371)

limbs/digits/tail
• of the forelimbs and hindlimbs (J:175371)
• of the forelimbs and hindlimbs (J:175371)

renal/urinary system
• dysplastic at E14.5 in 4 of 9 mice (J:175371)
• dysplastic at E14.5 in 4 of 9 mice (J:175371)
• hypoplastic at E14.5 in 4 of 9 mice (J:175371)
• hypoplastic at E14.5 in 4 of 9 mice (J:175371)

cellular
• decrease in the percentage of MEFs with cilia compared to wild-type MEFs (J:175371)
• decreased cilia length on MEFs and the population of cilia is divided between full length and truncated cilia (J:175371)
• decrease in the percentage of MEFs with cilia compared to wild-type MEFs (J:175371)
• decreased cilia length on MEFs and the population of cilia is divided between full length and truncated cilia (J:175371)
• decreased mean ventral node cilia length at E7.5 (J:175371)
• decreased mean ventral node cilia length at E7.5 (J:175371)

embryogenesis
• decreased mean ventral node cilia length at E7.5 (J:175371)
• decreased mean ventral node cilia length at E7.5 (J:175371)

skeleton
• at P0 (J:175371)
• at P0 (J:175371)

growth/size/body
• at P0 (J:175371)
• at P0 (J:175371)

Mouse Models of Human Disease
OMIM ID Ref(s)
Vacterl Association with Hydrocephalus 276950 J:175371




Genotype
MGI:4822142
hm2
Allelic
Composition
Ift172avc1/Ift172avc1
Genetic
Background
involves: C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift172avc1 mutation (0 available); any Ift172 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• bilateral (J:163196)
• bilateral (J:163196)
• mice develop complete atrioventricular septal defects (J:163196)
• mice develop complete atrioventricular septal defects (J:163196)
• bilateral (J:163196)
• bilateral (J:163196)

limbs/digits/tail
• bilaterally, and on fore- and hindlimbs (J:163196)
• bilaterally, and on fore- and hindlimbs (J:163196)

Mouse Models of Human Disease
OMIM ID Ref(s)
Atrioventricular Septal Defect; AVSD 606215 J:163196




Genotype
MGI:5290082
ht3
Allelic
Composition
Ift172avc1/Ift172wim
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift172avc1 mutation (0 available); any Ift172 mutation (4 available)
Ift172wim mutation (0 available); any Ift172 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• severely decreased mean ventral node cilia length at E7.5 (J:175371)
• severely decreased mean ventral node cilia length at E7.5 (J:175371)

cellular
• decrease in the percentage of MEFs with cilia compared to wild-type MEFs (J:175371)
• severely decreased cilia length on MEFs with a large population of truncated cilia and a much smaller population of full length cilia (J:175371)
• decrease in the percentage of MEFs with cilia compared to wild-type MEFs (J:175371)
• severely decreased cilia length on MEFs with a large population of truncated cilia and a much smaller population of full length cilia (J:175371)
• severely decreased mean ventral node cilia length at E7.5 (J:175371)
• severely decreased mean ventral node cilia length at E7.5 (J:175371)

cardiovascular system
• cardiac abnormalities (J:175371)
• cardiac abnormalities (J:175371)

craniofacial
• craniofacial abnormalities (J:175371)
• craniofacial abnormalities (J:175371)

limbs/digits/tail
• limb abnormalities (J:175371)
• limb abnormalities (J:175371)





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory