All Phenotypes Foxj1<tm1Bph> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxj1^tm1Bph/Foxj1^tm1Bph	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:2668968
hm2	Foxj1^tm1Bph/Foxj1^tm1Bph	involves: C57BL/6 * FVB/N	MGI:4889193
cx3	Foxj1^tm1Bph/Foxj1^tm1Bph Invs^inv/Invs^inv	involves: C57BL/6 * FVB/N	MGI:4889194

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:50025 )

• a significant portion of homozygotes die between E16.5 and E18.5

postnatal lethality, incomplete penetrance ( J:50025 )

• 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

growth/size/body

decreased birth body size ( J:50025 )

• newborn homozygotes are smaller in size than wild-type or heterozygous littermates

cachexia ( J:50025 )

• moribund homozygotes exhibit a wasted appearance

• however, no respiratory distress is observed

postnatal growth retardation ( J:50025 )

• rare postnatal survivors remain healthy but appear smaller than wild-type or heterozygous littermates

slow postnatal weight gain ( J:50025 )

• newborn homozygotes exhibit poor postnatal weight gain

decreased fetal weight ( J:50025 )

• by E16.5, homozygotes weigh significant less than wild-type controls

fetal growth retardation ( J:50025 )

heterotaxia ( J:50025 )

• 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

situs inversus totalis ( J:50025 )

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

• no asplenia or polysplenia is observed

nervous system

absent brain ependyma motile cilia ( J:50025 )

• homozygotes exhibit complete absence of cilia in the chorid plexus

hydrocephaly ( J:50025 )

• at >1 wk of age, 3 of 6 homozygotes exhibit hydrocephalus, with one of them dying at 4 weeks

abnormal choroid plexus morphology ( J:50025 )

• homozygotes exhibit complete absence of cilia in the chorid plexus

embryo

abnormal left-right axis patterning ( J:50025 )

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

behavior/neurological

decreased locomotor activity ( J:50025 )

• moribund homozygotes are less active than wild-type mice

reproductive system

absent oviduct epithelium motile cilium ( J:50025 )

• homozygotes exhibit complete absence of cilia in the oviduct

absent sperm flagellum ( J:50025 )

• mutant sperm lack flagella

infertility ( J:50025 )

• rare postnatal male and female survivors fail to reproduce

respiratory system

absent respiratory motile cilia ( J:50025 )

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

cardiovascular system

dextrocardia ( J:50025 )

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

cellular

absent brain ependyma motile cilia ( J:50025 )

• homozygotes exhibit complete absence of cilia in the chorid plexus

absent oviduct epithelium motile cilium ( J:50025 )

• homozygotes exhibit complete absence of cilia in the oviduct

absent respiratory motile cilia ( J:50025 )

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

absent sperm flagellum ( J:50025 )

• mutant sperm lack flagella

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Kartagener syndrome	DOID:0050144		J:50025
primary ciliary dyskinesia	DOID:9562	OMIM:PS244400	J:50025

Allelic Composition	Foxj1^tm1Bph/Foxj1^tm1Bph
Genetic Background	involves: C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxj1^tm1Bph mutation (1 available); any Foxj1 mutation (21 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:104135 )

• about 50% of homozygotes die prior to E18.5

respiratory system

lung situs inversus ( J:104135 )

• at E18.5, 10% of homozygotes display a reversal of lung laterality resulting in a single-lobed right lung and a four-lobed left lung

right pulmonary isomerism ( J:104135 )

• Background Sensitivity: unexpectedly, 60% of E18.5 homozygotes on a mixed genetic background involving C57BL/6 and FVB/N display four lobes in both lungs; in contrast, on a C57BL/6 background, 50% of homozygotes show a normal lung pattern while the remaining 50% show a reversal lung pattern

• right pulmonary isomerism is likely due to absence of Pitx2 expression in both lateral plate mesoderms at E8.5

digestive/alimentary system

abnormal stomach position or orientation ( J:104135 )

• at E18.5, 10% of homozygotes display a centrally located stomach

right-sided stomach ( J:104135 )

• at E18.5, 50% of homozygotes display a right-sided stomach

growth/size/body

right-sided stomach ( J:104135 )

• at E18.5, 50% of homozygotes display a right-sided stomach

lung situs inversus ( J:104135 )

• at E18.5, 10% of homozygotes display a reversal of lung laterality resulting in a single-lobed right lung and a four-lobed left lung

right pulmonary isomerism ( J:104135 )

• right pulmonary isomerism is likely due to absence of Pitx2 expression in both lateral plate mesoderms at E8.5

cardiovascular system

cardiovascular system phenotype ( J:104135 )

N	• unexpectedly, all surviving homozygotes display a normal left-sided aortic arch at E18.5

aorta hypoplasia ( J:104135 )

• at E18.5, 3 of 10 homozygotes display an underdeveloped aorta

Allelic Composition	Foxj1^tm1Bph/Foxj1^tm1Bph Invs^inv/Invs^inv
Genetic Background	involves: C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxj1^tm1Bph mutation (1 available); any Foxj1 mutation (21 available)
Invs^inv mutation (4 available); any Invs mutation (60 available)

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

respiratory system

right pulmonary isomerism ( J:104135 )

• at E18.5, nearly all (18 of 21) double homozygotes display right pulmonary isomerism

• right pulmonary isomerism is likely due to absence of Pitx2 expression in both lateral plate mesoderms at E8.5

cardiovascular system

right aortic arch ( J:104135 )

• at E18.5, 10 of 21 double homozygotes display a right-sided aortic arch

• the remaining 11 show a normal left-sided aortic arch

aorta hypoplasia ( J:104135 )

• at E18.5, 3 of the 11 double homozygotes with a normal left-sided aortic arch display an underdeveloped aorta

digestive/alimentary system

right-sided stomach ( J:104135 )

• at E18.5, 61% of double homozygotes display a right-sided stomach

• no colinearity of the sidedness between the aortic arch and stomach is observed

growth/size/body

right-sided stomach ( J:104135 )

• at E18.5, 61% of double homozygotes display a right-sided stomach

• no colinearity of the sidedness between the aortic arch and stomach is observed

right pulmonary isomerism ( J:104135 )

• at E18.5, nearly all (18 of 21) double homozygotes display right pulmonary isomerism

• right pulmonary isomerism is likely due to absence of Pitx2 expression in both lateral plate mesoderms at E8.5

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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