Mouse Genome Informatics
hm
    Foxj1tm1Slb/Foxj1tm1Slb
involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most die at birth to P3, though some survived as long as P12-P40 (J:73616)
• mice do not survive beyond P7 (J:174694)

embryogenesis
• completely immotile nodal cilia
• appear slightly smaller compared to wild-type controls
• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells
• severe reduction in length in both mid and late head fold stage embryos

nervous system
• at P21, multiple brain regions and the olfactory bulb exhibit growth defects compared to in wild-type mice
• mice exhibit growth retardation in the olfactory bulb
• those that survive to P7, develop a hydrocephalic head shape (J:73616)
• cerebral ventricles lack cilia
• at P21, the ependymal layer organization is disrupted and S100b+ ependymal cells are absent at P6 and P21
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the brain
• in contrast, normal embryonic node cilia are present at E7.5 to E7.7
• in mice that survived past P7
• at P21, the volume of the olfactory bulb is reduced compared to in wild-type mice
• at P21, the surface of the subventricular zone lacks cilia unlike in wild-type mice
• on the ventricular surface

cardiovascular system
• abnormalities of the great vessels of the heart including transposition

growth/size/body
• approximately half the homozygous mice exhibit heterotaxia or dextrocarida or both

respiratory system
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the airway epithelial cells

reproductive system
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the oviduct epithelial cells (J:73616)

cellular
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the oviduct epithelial cells (J:73616)
• absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the airway epithelial cells
• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells
• severe reduction in length in both mid and late head fold stage embryos
• completely immotile nodal cilia

Mouse Models of Human Disease
OMIM IDRef(s)
Ciliary Dyskinesia, Primary, 1; CILD1 244400 J:73616