Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxi1tm1Sven mutation
(1 available);
any
Foxi1 mutation
(17 available)
|
|
|
reproductive system
|
N |
• male homozygotes display normal epididymal sperm counts and normal sperm motility relative to wild-type males
|
 |
• male homozygotes show a significantly higher number of sperm with tail angulations than wild-type males
|
|
|
• mutant epididymides exhibit a significantly higher pH, an increased luminal area and a higher organ to body weight ratio, suggesting an aletered epididymal microenvironment
|
|
|
• male homozygotes display an increased luminal area of epididymal ducts relative to wild-type males
|
|
|
• male homozygotes display an increased epididymis/body weight ratio relative to wild-type males
|
|
|
• when mated to wild-type females, male homozygotes are unable to give rise to pregnancies and produce offspring
• however, male homozygotes are able to mate, ejaculate and produce macroscopically normal vaginal plugs
|
|
|
• male homozygotes show a significantly higher epididymal luminal fluid pH relative to wild-type males (pH = 6.9 vs pH = 6.4, respectively)
• post-testicular sperm maturation is impaired, due to failure of proper acidification of epididymal luminal content caused by defective narrow and clear cell function
|
|
|
• despite normal motility, an insufficient number of mutant sperm reach the female genital tract, as shown by direct sperm counts from flushed uteri
|
cellular
|
|
• male homozygotes show a significantly higher number of sperm with tail angulations than wild-type males
|
|
|
• despite normal motility, an insufficient number of mutant sperm reach the female genital tract, as shown by direct sperm counts from flushed uteri
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxi1tm1Sven mutation
(1 available);
any
Foxi1 mutation
(17 available)
|
|
|
mortality/aging
|
|
• approximately 50% of homozygous animals die perinatally
|
behavior/neurological
|
|
• homozygotes have no Preyer's reflex
|
|
|
• 81% of homozygotes are poor swimmers: they sink under the surface or swim with their body tilted to one side
|
|
|
• at 3 weeks, homozygotes display head tilting
|
|
|
• at 3 weeks, homozygotes exhibit hyperactivity and a pathological reaching response
|
|
|
• at 3 weeks, homozygotes exhibit behavioral deficits associated with vestibular dysfunction, such as waltzer/shaker-like circling behavior
|
hearing/vestibular/ear
|
|
• in homozygotes, the bony compartment in which the inner ear resides is severely malformed
• the inner ear is replaced by a large, irregular and continuous cavity, similar to a group of human congenital inner ear malformations called 'common cavity'
|
|
|
• the entire vestibulum is absent
|
|
|
• in homozygotes, absence of a Preyer's reflex indicates a profound hearing impairment
|
homeostasis/metabolism
renal/urinary system
|
N |
• homozygotes display no signs of structural malformations in the kidney at the macro- and microscopic level
|
nervous system
|
N |
• homozygotes display no signs of structural aberrations in brain
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxi1tm1Sven mutation
(1 available);
any
Foxi1 mutation
(17 available)
|
|
|
hearing/vestibular/ear
|
|
• homozygotes display cystic dilatation of the inner ears at E18.5
|
|
|
• at E16.5, the basal turn of the cochlea is larger while the apical turn has formed an apical cyst
|
|
|
• at E16.5, homozygotes show a prominent expansion of the common crus
|
|
|
• at E16.5, homozygotes show a prominent expansion of the lateral semicircular canal
|
|
|
• at E16.5, homozygotes show a prominent expansion of the posterior semicircular canal, common crus and ampullae
|
|
|
• at E16.5, the entire membranous labyrinth appears enlarged; no major aberrations are observed up to E13.5
|
|
|
• at E16.5, the mutant utricle is significantly enlarged relative to wild-type
|
|
|
• at E16.5, the mutant saccule is significantly enlarged relative to wild-type
|
|
|
• at E16.5, homozygotes exhibit a pronounced expansion of the endolymphatic compartment
• by P12, the peri- and endolymphatic compartments of the inner ear have been replaced by a common irregular cavity
|
|
|
• at E16.5, homozygotes exhibit a severe dilatation of the endolymphatic sac
|
|
|
• homozygotes show complete absence of the normally white utricular and saccular otoconia found in wild-type, suggesting defective crystallization of calcium carbonate crystals
|
|
|
• homozygotes lack an endocochlear potential indicating a primary defect in fluid homeostasis in the inner ear
|
craniofacial
|
|
• the mutant temporal bone is thinner adjacent to the inner ear relative to wild-type
• at E18.5, homozygotes show abnormal integration of the otic capsule into the temporal bone anlagen associated with ectopic cartilage and/or bone formation
|
cellular
|
|
• at E16.5, homozygotes show a minor increase of apoptosis in a small mesenchymal cell population adjacent to the expanded endolymphatic duct
|
nervous system
|
|
• the mutant cerebellum appears compressed due to the severe expansion of the inner ear
|
renal/urinary system
|
|
• homozygotes fail to secrete protons in response to both a chronic as well as an acute acidic load
• homozygotes are unable to acidify the urine and display a reduced systemic buffer capacity
• homozygotes develop renal tubular acidosis in response to a prolonged acidic load
|
|
|
• homozygotes produce urine with elevated pH relative to wild-type
|
|
|
• homozygotes show ultrastructural changes in the epithelium of the cortical collecting duct (CCD)
• mitochondria-rich cells with a protruding "tussock-like" apex are missing from mutants CCDs
• the distal nephron epithelium with its two major cell types (principal and intercalated cells) is replaced by a single cell type positive for both principal and intercalated cell markers
|
homeostasis/metabolism
skeleton
|
|
• the mutant temporal bone is thinner adjacent to the inner ear relative to wild-type
• at E18.5, homozygotes show abnormal integration of the otic capsule into the temporal bone anlagen associated with ectopic cartilage and/or bone formation
|
growth/size/body
|
|
• homozygotes display cystic dilatation of the inner ears at E18.5
|
Allelic
Composition |
Foxi1tm1Sven/Foxi1+
|
|
Genetic
Background |
involves: 129S1/Sv * 129X1/SvJ * CD-1 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxi1tm1Sven mutation
(1 available);
any
Foxi1 mutation
(17 available)
|
|
|
mortality/aging
|
|
• approximately one fourth of heterozygous animals die at birth; animals are otherwise healthy and fertile
|
behavior/neurological
|
N |
• in contrast to homozygotes, heterozygotes display a normal reaching response and a normal swimming ability
|
hearing/vestibular/ear
|
N |
• in contrast to homozygotes, heterozygotes display a normal Preyer's reflex and normal inner ear structure
|
Analysis Tools