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Phenotypes Associated with This Genotype
Genotype
MGI:5290081
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 (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

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

nervous system
• in 4 of 5 mice
• ventriculomegaly at P0

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

respiratory system
• enlarged and abnormal at E14.5
• cystic trachea in 1 mouse

craniofacial

limbs/digits/tail
• of the forelimbs and hindlimbs

renal/urinary system
• dysplastic at E14.5 in 4 of 9 mice
• hypoplastic at E14.5 in 4 of 9 mice

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

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

skeleton

growth/size/body

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory