Mouse Genome Informatics
hm
    Foxj1tm1Bph/Foxj1tm1Bph
involves: 129S1/Sv * 129X1/SvJ * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most homozygotes die during the first 4 days of life
• only 2.6% of homozygotes are obtained at 2-3 weeks of age
• rare male and female homozygotes survive beyond 12 weeks of age
• a significant portion of homozygotes die between E16.5 and E18.5

growth/size
• newborn homozygotes are smaller in size than wild-type or heterozygous littermates
• moribund homozygotes exhibit a wasted appearance
• however, no respiratory distress is observed
• rare postnatal survivors remain healthy but appear smaller than wild-type or heterozygous littermates
• newborn homozygotes exhibit poor postnatal weight gain
• by E16.5, homozygotes weigh significant less than wild-type controls
• at birth, a portion of homozygotes display heterotaxy with either reversal of the abdominal viscera and normal heart position or dextrocardia with normal positioning of the abdominal viscera
• at birth, 48.1% of homozygotes show reversal of the abdominal viscera and dextrocardia consistent with random determination of left-right asymmetry
• however, no asplenia or polysplenia is observed

nervous system
• at >1 wk of age, 3 of 6 homozygotes exhibit hydrocephalus, with one of them dying at 4 weeks
• homozygotes exhibit complete absence of cilia in the chorid plexus
• homozygotes exhibit complete absence of cilia in the chorid plexus

embryogenesis
• at birth, 48.1% of homozygotes show reversal of the abdominal viscera and dextrocardia consistent with random determination of left-right asymmetry

behavior/neurological
• moribund homozygotes are less active than wild-type mice

reproductive system
• homozygotes exhibit complete absence of cilia in the oviduct (J:50025)
• mutant sperm lack flagella (J:50025)
• rare postnatal male and female survivors fail to reproduce

respiratory system
• homozygotes exhibit complete absence of cilia in the proximal respiratory epithelium

cardiovascular system
• at birth, 48.1% of homozygotes show dextrcardia associated with reversal of the abdominal viscera

cellular
• homozygotes exhibit complete absence of cilia in the oviduct (J:50025)
• homozygotes exhibit complete absence of cilia in the proximal respiratory epithelium
• mutant sperm lack flagella (J:50025)

Mouse Models of Human Disease
OMIM IDRef(s)
Ciliary Dyskinesia, Primary, 1; CILD1 244400 J:50025