Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcoln3Va mutation
(2 available);
any
Mcoln3 mutation
(35 available)
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mortality/aging
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• mortality is very high in homozygotes, and very few of the survivors are fertile
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hearing/vestibular/ear
behavior/neurological
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• in reaction to sudden jarring
• Homozygotes show more intense behavioral abnormalities than heterozygotes
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• Homozygotes show more intense behavioral abnormalities than heterozygotes
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• waddling "duck like" walk
• Homozygotes show more intense behavioral abnormalities than heterozygotes
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• usually in motion when not asleep, nodding and tossing their heads
• homozygotes show more intense behavioral abnormalities than heterozygotes
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• mixed circling habits are present as early as 14 days after birth
• Homozygotes show more intense behavioral abnormalities than heterozygotes
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• neglect their young and trample pups
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• a convulsive stiffening of the body in reaction to sudden jarring
• Homozygotes show more intense behavioral abnormalities than heterozygotes
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nervous system
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• a convulsive stiffening of the body in reaction to sudden jarring
• Homozygotes show more intense behavioral abnormalities than heterozygotes
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pigmentation
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• their coats are white, except for small patches of unaltered color near the ears and base of the tail
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reproductive system
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• very few of the survivors are fertile
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integument
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• their coats are white, except for small patches of unaltered color near the ears and base of the tail
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcoln3Va mutation
(2 available);
any
Mcoln3 mutation
(35 available)
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mortality/aging
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• mortality is very high in homozygotes
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behavior/neurological
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• often homozygous do not right themselves
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hearing/vestibular/ear
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• at 35 days the hair cells are gone
• the cells of Deiter are still present and not dedifferentiated
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• becomes distinctly abnormal at the age of 17 days
• nuclei becomes rounded and later lose their cytoplasmic processes
• more severely affected than heterozygous mice
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• loses all contact with the organ of Corti by 7 days
• remain detached from the organ of Corti and later shrivels up
• more severely affected than heterozygous mice
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• staring 4 days of age
• the tectorial membrane in mutant mice forms a big bulge instead of forming a thin strand of the outer marginal zone
• more severely affected than heterozygous mice
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• at age of 25 days the hairs have mostly disappeared
• the gelatinous cupula remains
• more severely affected than heterozygous mice
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nervous system
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• at 35 days the hair cells are gone
• the cells of Deiter are still present and not dedifferentiated
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• a change in the shape of the cells and their nuclei are seen starting at the age of 6 days
• more severely affected than heterozygous mice
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• a reduction in cell size and density by 9 days
• destruction of nerve cells through life
• more severely affected than heterozygous mice and degeneration is quicker
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• the average cell size in the vestibular ganglion is reduced
• more severely affected than heterozygous mice
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Allelic
Composition |
Mcoln3Va/Mcoln3+
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Genetic
Background |
involves: C57BL * C57BR |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcoln3Va mutation
(2 available);
any
Mcoln3 mutation
(35 available)
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|
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hearing/vestibular/ear
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• at 2 weeks of age heterozygotes only return positive waveforms to an 8 kHz stimulus at 95 dB and by 3 weeks of age there is no response to click or 32 kHz stimuli
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behavior/neurological
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• in reaction to sudden jarring
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• waddling "duck like" walk
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|
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• usually in motion when not asleep, nodding and tossing their heads
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• mixed circling habits are present as early as 14 days after birth
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• neglect their young and trample pups
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|
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• a convulsive stiffening of the body in reaction ot sudden jarring
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nervous system
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• a convulsive stiffening of the body in reaction ot sudden jarring
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pigmentation
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• with patches of normal-colored, diluted, and white fur
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• coat color is more dilute and mottled than in Va-J heterozygotes, with an entirely white ventrum and a large white spot on the forehead
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reproductive system
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• some of the heterozygous mice, especially the males are sterile
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integument
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• with patches of normal-colored, diluted, and white fur
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• coat color is more dilute and mottled than in Va-J heterozygotes, with an entirely white ventrum and a large white spot on the forehead
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Allelic
Composition |
Mcoln3Va/Mcoln3+
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Genetic
Background |
mixed |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcoln3Va mutation
(2 available);
any
Mcoln3 mutation
(35 available)
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|
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behavior/neurological
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• a marked inability to negotiate a narrow bridge at two or three days before their eyes open
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• elderly heterozygous mice over 10 months old cannot swim
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hearing/vestibular/ear
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• unequal size of the hair cells by 11 day
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• some of hair cells disappear entirely by the 17th day
• the others are drastically reduced
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• becomes distinctly abnormal at the age of 17 days
• nuclei becomes rounded and later lose their cytoplasmic processes
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• loses all contact with the organ of Corti by 7 days
• remain detached from the organ of Corti and later shrivels up
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• staring 4 days of age
• the tectorial membrane in mutant mice forms a big bulge instead of forming a thin strand of the outer marginal zone
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• at age of 25 days the hairs have mostly disappeared
• the gelatinous cupula remains
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nervous system
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• unequal size of the hair cells by 11 day
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• some of hair cells disappear entirely by the 17th day
• the others are drastically reduced
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• a change in the shape of the cells and their nuclei are seen starting at the age of 6 days
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• a reduction in cell size and density by 9 days
• destruction of nerve cells through life
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• the average cell size in the vestibular ganglion is reduced
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mortality/aging
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• only 12 compound heterozygotes were produced in 231 progeny from a Va/+ and VaJ/+ cross (over 50 expected) and 4 of these died young
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pigmentation
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• mostly white with patches of dilute color like Mcoln3Va-J/Mcoln3Va-J
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behavior/neurological
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• abnormal behavior like Mcoln3Va/Mcoln3+
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• circling is described as vigorous
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growth/size/body
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• somewhat smaller than the VaJ homozygous mice
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hearing/vestibular/ear
reproductive system
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• only one male bred at 10 months of age
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integument
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• mostly white with patches of dilute color like Mcoln3Va-J/Mcoln3Va-J
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Analysis Tools