Analysis Tools
mortality/aging
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• 5 of 23 were found dead within 24 hours of birth
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• 11 of 23 pups lived for less than 2 days (including those dying within 24 hours of birth)
(J:4501)
• 7 of 23 pups (30%) lived for between 2 days and 3 weeks and 22% survive to weaning
(J:4501)
• at weaning, only 10% of heterozygous intercross offspring were homozygous mutant, indicating significant lethality associated with this allele
(J:128377)
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limbs/digits/tail
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• the first 4 to 7 caudal vertebrae are normal, however the rest show abnormally shaped and/or fused vertebrae that have not begun to ossify
• pattern of fusions and malformations is different in each mutant mouse
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• number of caudal vertebral units varies from 9 to 23 compared to the normal 29
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kinked tail
(
J:4501
)
hearing/vestibular/ear
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• exhibit varied penetrance of and both asymmetric (6 of 14) and symmetric (5 of 14) inner ear defects; some mutants show normal inner ears (2 of 14)
• develop hydrops (distention) of the inner ear
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• cochlea appears to be improperly coiled
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• the swollen cochlear duct showed incomplete partition and poor coiling
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• semicircular canals are enlarged
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• the posterior semicircular canal is missing or greatly reduced
(J:4501)
• absence or severe truncation of the anterior and posterior semicircular canals in some
(J:128377)
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• absence or severe truncation of the anterior and posterior semicircular canals in some
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• distension of the vestibular portions of the E15.5 ear
• the utricle and saccule show no signs of a division into two parts at E15.5
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• all affected mutant ears had a distended membranous labyrinth
(J:128377)
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• cochlear duct is not a neatly coiled tube but instead, a distended sac
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• fusion of utricle and saccule
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• fusion of utricle and saccule
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• endolymphatic duct is severely reduced in size by E11.5 and is missing at E13.5
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• lack an endolymphatic sac at E13.5
(J:4501)
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behavior/neurological
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• a female surviving past the postnatal period has little tendency to startle in response to an unseen hand clap (Preyer's reflex)
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• females surviving past the postnatal period have difficulty righting themselves when placed on their backs, however show improvement by 5 weeks of age compared to at 3 weeks of age
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• a female surviving past the postnatal period shows little or no ear movement in response to clicking noises from behind and has little tendency to startle in response to an unseen hand clap (Preyer's reflex)
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• head is tilted consistently to the right in females that survive past the postnatal period
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hyperactivity
(
J:4501
)
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• seen in females that survive past the postnatal period
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embryo
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• embryos appear to be developmentally younger than controls at E12.5
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• smaller starting at E12.5
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• tails show an abnormally large neural tube, especially in the most caudal regions
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• tails at E11.5 show disorganized somites with no clear demarcation between left and right sides and in some mutants, somite blocks appear to form on top of each other
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growth/size/body
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• embryos appear to be developmentally younger than controls at E12.5
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• smaller starting at E12.5
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nervous system
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• tails show an abnormally large neural tube, especially in the most caudal regions
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• the VII-VIIIth (facio-acoustic) ganglion is smaller at E10.5
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• spiral ganglion neurons that normally innervate the cochlear hair cells are severerly reduced in number
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skeleton
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• the first 4 to 7 caudal vertebrae are normal, however the rest show abnormally shaped and/or fused vertebrae that have not begun to ossify
• pattern of fusions and malformations is different in each mutant mouse
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• number of caudal vertebral units varies from 9 to 23 compared to the normal 29
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