Phenotypes Associated with This Genotype

Genotype
MGI:2679917

• Allelic Composition: Foxj1^tm1Slb/Foxj1^tm1Slb
• Genetic Background: involves: 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:73616 , J:174694 )

• most die at birth to P3, though some survived as long as P12-P40 (J:73616)

• mice do not survive beyond P7 (J:174694)

embryo

absent nodal flow ( J:182741 )

• completely immotile nodal cilia

abnormal primitive node morphology ( J:182741 )

• appear slightly smaller compared to wild-type controls

abnormal embryonic cilium location or orientation ( J:182741 )

• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells

decreased embryonic cilium length ( J:182741 )

• severe reduction in length in both mid and late head fold stage embryos

nervous system

abnormal brain development ( J:154976 )

• at P21, multiple brain regions and the olfactory bulb exhibit growth defects compared to in wild-type mice

abnormal olfactory bulb development ( J:154976 )

• mice exhibit growth retardation in the olfactory bulb

hydrocephaly ( J:73616 , J:154976 )

• those that survive to P7, develop a hydrocephalic head shape (J:73616)

abnormal brain ventricle morphology ( J:154976 )

• cerebral ventricles lack cilia

abnormal brain ependyma morphology ( J:154976 )

• at P21, the ependymal layer organization is disrupted and S100b+ ependymal cells are absent at P6 and P21

absent brain ependyma motile cilia ( J:73616 )

• 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

dilated lateral ventricle ( J:73616 )

• in mice that survived past P7

small olfactory bulb ( J:154976 )

• at P21, the volume of the olfactory bulb is reduced compared to in wild-type mice

abnormal postnatal subventricular zone morphology ( J:154976 )

• at P21, the surface of the subventricular zone lacks cilia unlike in wild-type mice

astrocytosis ( J:154976 )

• on the ventricular surface

cardiovascular system

transposition of great arteries ( J:73616 )

• abnormalities of the great vessels of the heart including transposition

dextrocardia ( J:73616 )

growth/size/body

postnatal growth retardation ( J:73616 )

situs inversus ( J:73616 )

• approximately half the homozygous mice exhibit heterotaxia or dextrocarida or both

respiratory system

absent respiratory motile cilia ( J:73616 )

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

reproductive system

absent oviduct epithelium motile cilium ( J:73616 )

♀ • absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the oviduct epithelial cells

cellular

absent brain ependyma motile cilia ( J:73616 )

• 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

abnormal embryonic cilium location or orientation ( J:182741 )

• position of cilia emergence is randomized rather than polarized towards the posterior end of the nodal cells

decreased embryonic cilium length ( J:182741 )

• severe reduction in length in both mid and late head fold stage embryos

absent oviduct epithelium motile cilium ( J:73616 )

♀ • absence of classic motile type cilia with a 9 + 2 microtubule ultrastructure in the oviduct epithelial cells

absent respiratory motile cilia ( J:73616 )

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

absent nodal flow ( J:182741 )

• completely immotile nodal cilia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kartagener syndrome		DOID:0050144		J:73616
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:73616