Phenotypes Associated with This Genotype

Genotype
MGI:4461790

• Allelic Composition: Ttll1^tm1Seto/Ttll1^tm1Seto
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

respiratory system

abnormal respiratory motile cilium morphology ( J:161297 )

• mice exhibit loss of axonemal curvature in tracheal epithelial cilia compared with wild-type mice

• however, mice exhibit normal axonemes in tracheal epithelial cilia 9 + 2 structure

abnormal respiratory motile cilium physiology ( J:161297 )

• mice exhibit loss of beating asymmetry in isolated ATP-reactivated ciliary axonemes and intact tracheal ciliary axonemes compared with wild-type mice

• isolated and intact tracheal ciliary axonemes exhibit a 1.5-fold increase in ciliary beating frequency compared to in wild-type mice

rhinosinusitis ( J:161297 )

• mice exhibit an accumulation of mucous in the nasal cavity indicating rhinosinusitis compared with wild-type mice

abnormal tracheal ciliated epithelium morphology ( J:161297 )

• mice exhibit loss of axonemal curvature in tracheal epithelial cilia compared with wild-type mice

abnormal mucociliary clearance ( J:161297 )

• mice exhibit a decrease in cilia-driven transport compared with wild-type mice

• mice exhibit an accumulation of mucous in the nasal cavity indicating rhinosinusitis compared with wild-type mice

abnormal respiratory sounds ( J:161297 )

• mice exhibit coughing or sneezing-like noises unlike wild-type mice

coughing ( J:161297 )

• mice exhibit coughing-like noises

sneezing ( J:161297 )

• mice exhibit sneezing-like noises

immune system

rhinosinusitis ( J:161297 )

• mice exhibit an accumulation of mucous in the nasal cavity indicating rhinosinusitis compared with wild-type mice

reproductive system

short sperm flagellum ( J:161297 )

♂

cellular

abnormal respiratory motile cilium morphology ( J:161297 )

• mice exhibit loss of axonemal curvature in tracheal epithelial cilia compared with wild-type mice

• however, mice exhibit normal axonemes in tracheal epithelial cilia 9 + 2 structure

short sperm flagellum ( J:161297 )

♂

abnormal respiratory motile cilium physiology ( J:161297 )

• mice exhibit loss of beating asymmetry in isolated ATP-reactivated ciliary axonemes and intact tracheal ciliary axonemes compared with wild-type mice

• isolated and intact tracheal ciliary axonemes exhibit a 1.5-fold increase in ciliary beating frequency compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:161297