Mouse Genome Informatics
hm1
    Ift172avc1/Ift172avc1
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

cardiovascular system
N
• no cardiac looping abnormalities are detected (J:175371)
• 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

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

skeleton

growth/size/body

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


Mouse Genome Informatics
hm2
    Ift172avc1/Ift172avc1
involves: C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

cardiovascular system
• bilateral
• mice develop complete atrioventricular septal defects

limbs/digits/tail
• bilaterally, and on fore- and hindlimbs

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


Mouse Genome Informatics
ht3
    Ift172avc1/Ift172wim
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
embryogenesis
• severely decreased mean ventral node cilia length at E7.5

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

cardiovascular system

craniofacial
• craniofacial abnormalities

limbs/digits/tail
• limb abnormalities