Phenotypes associated with this allele

• Allele Symbol: Mcoln3^Va
• Allele Name: varitint waddler
• Allele ID: MGI:1856230
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mcoln3^Va/Mcoln3^Va	involves: C57BL * C57BR	MGI:3696790
hm2	Mcoln3^Va/Mcoln3^Va	mixed	MGI:3696961
ht3	Mcoln3^Va/Mcoln3^+	involves: C57BL * C57BR	MGI:3696789
ht4	Mcoln3^Va/Mcoln3^+	mixed	MGI:3696960
ht5	Mcoln3^Va/Mcoln3^Va-J	Not Specified	MGI:3697410

Genotype
MGI:3696790

hm1

• Allelic Composition: Mcoln3^Va/Mcoln3^Va
• Genetic Background: involves: C57BL * C57BR

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:13133 )

• mortality is very high in homozygotes, and very few of the survivors are fertile

hearing/vestibular/ear

deafness ( J:13133 )

behavior/neurological

jumpy ( J:13133 )

• in reaction to sudden jarring

• Homozygotes show more intense behavioral abnormalities than heterozygotes

head tossing ( J:13133 )

• Homozygotes show more intense behavioral abnormalities than heterozygotes

abnormal locomotor coordination ( J:13133 )

• waddling "duck like" walk

• Homozygotes show more intense behavioral abnormalities than heterozygotes

hyperactivity ( J:13133 )

• usually in motion when not asleep, nodding and tossing their heads

• homozygotes show more intense behavioral abnormalities than heterozygotes

circling ( J:13133 )

• mixed circling habits are present as early as 14 days after birth

• Homozygotes show more intense behavioral abnormalities than heterozygotes

abnormal maternal nurturing ( J:13133 )

♀ • neglect their young and trample pups

tonic seizures ( J:13133 )

• a convulsive stiffening of the body in reaction to sudden jarring

• Homozygotes show more intense behavioral abnormalities than heterozygotes

nervous system

tonic seizures ( J:13133 )

• a convulsive stiffening of the body in reaction to sudden jarring

• Homozygotes show more intense behavioral abnormalities than heterozygotes

pigmentation

variegated coat color ( J:13133 )

• their coats are white, except for small patches of unaltered color near the ears and base of the tail

reproductive system

reduced fertility ( J:13133 )

• very few of the survivors are fertile

integument

variegated coat color ( J:13133 )

• their coats are white, except for small patches of unaltered color near the ears and base of the tail

Genotype
MGI:3696961

hm2

• Allelic Composition: Mcoln3^Va/Mcoln3^Va
• Genetic Background: mixed

mortality/aging

prenatal lethality, incomplete penetrance ( J:13046 )

• mortality is very high in homozygotes

behavior/neurological

impaired righting response ( J:13046 )

• often homozygous do not right themselves

hearing/vestibular/ear

cochlear hair cell degeneration ( J:13046 )

• at 35 days the hair cells are gone

• the cells of Deiter are still present and not dedifferentiated

abnormal stria vascularis morphology ( J:13046 )

• becomes distinctly abnormal at the age of 17 days

• nuclei becomes rounded and later lose their cytoplasmic processes

• more severely affected than heterozygous mice

detached tectorial membrane ( J:13046 )

• 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

enlarged tectorial membrane ( J:13046 )

• 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

abnormal crista ampullaris morphology ( J:13046 )

• at age of 25 days the hairs have mostly disappeared

• the gelatinous cupula remains

• more severely affected than heterozygous mice

nervous system

cochlear hair cell degeneration ( J:13046 )

• at 35 days the hair cells are gone

• the cells of Deiter are still present and not dedifferentiated

abnormal vestibulocochlear ganglion morphology ( J:13046 )

• 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

cochlear ganglion degeneration ( J:13046 )

• 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

abnormal vestibular ganglion morphology ( J:13046 )

• the average cell size in the vestibular ganglion is reduced

• more severely affected than heterozygous mice

Genotype
MGI:3696789

ht3

• Allelic Composition: Mcoln3^Va/Mcoln3⁺
• Genetic Background: involves: C57BL * C57BR

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:78812 )

• 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

deafness ( J:13133 , J:78812 )

behavior/neurological

jumpy ( J:13133 )

• in reaction to sudden jarring

head tossing ( J:13133 )

• choreic head movements

abnormal locomotor coordination ( J:13133 )

• waddling "duck like" walk

hyperactivity ( J:13133 )

• usually in motion when not asleep, nodding and tossing their heads

circling ( J:13133 )

• mixed circling habits are present as early as 14 days after birth

abnormal maternal nurturing ( J:13133 )

♀ • neglect their young and trample pups

tonic seizures ( J:13133 )

• a convulsive stiffening of the body in reaction ot sudden jarring

nervous system

tonic seizures ( J:13133 )

• a convulsive stiffening of the body in reaction ot sudden jarring

pigmentation

diluted coat color ( J:78812 )

variegated coat color ( J:13133 )

• with patches of normal-colored, diluted, and white fur

mottled coat ( J:78812 )

• 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

white spotting ( J:78812 )

head spot ( J:78812 )

reproductive system

reduced fertility ( J:13133 )

• some of the heterozygous mice, especially the males are sterile

integument

diluted coat color ( J:78812 )

variegated coat color ( J:13133 )

• with patches of normal-colored, diluted, and white fur

mottled coat ( J:78812 )

• 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

white spotting ( J:78812 )

head spot ( J:78812 )

Genotype
MGI:3696960

ht4

• Allelic Composition: Mcoln3^Va/Mcoln3⁺
• Genetic Background: mixed

behavior/neurological

impaired coordination ( J:13046 )

• a marked inability to negotiate a narrow bridge at two or three days before their eyes open

impaired swimming ( J:13046 )

• elderly heterozygous mice over 10 months old cannot swim

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:13046 )

• unequal size of the hair cells by 11 day

cochlear hair cell degeneration ( J:13046 )

• some of hair cells disappear entirely by the 17th day

• the others are drastically reduced

abnormal stria vascularis morphology ( J:13046 )

• becomes distinctly abnormal at the age of 17 days

• nuclei becomes rounded and later lose their cytoplasmic processes

detached tectorial membrane ( J:13046 )

• loses all contact with the organ of Corti by 7 days

• remain detached from the organ of Corti and later shrivels up

enlarged tectorial membrane ( J:13046 )

• 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

abnormal crista ampullaris morphology ( J:13046 )

• at age of 25 days the hairs have mostly disappeared

• the gelatinous cupula remains

nervous system

abnormal cochlear hair cell morphology ( J:13046 )

• unequal size of the hair cells by 11 day

cochlear hair cell degeneration ( J:13046 )

• some of hair cells disappear entirely by the 17th day

• the others are drastically reduced

abnormal vestibulocochlear ganglion morphology ( J:13046 )

• a change in the shape of the cells and their nuclei are seen starting at the age of 6 days

cochlear ganglion degeneration ( J:13046 )

• a reduction in cell size and density by 9 days

• destruction of nerve cells through life

abnormal vestibular ganglion morphology ( J:13046 )

• the average cell size in the vestibular ganglion is reduced

Genotype
MGI:3697410

ht5

• Allelic Composition: Mcoln3^Va/Mcoln3^Va-J
• Genetic Background: Not Specified

mortality/aging

preweaning lethality, incomplete penetrance ( J:5286 )

• only 12 compound heterozygotes were produced in 231 progeny from a Va/+ and Va^J/+ cross (over 50 expected) and 4 of these died young

pigmentation

variegated coat color ( J:64107 )

• mostly white with patches of dilute color like Mcoln3^Va-J/Mcoln3^Va-J

white spotting ( J:5286 )

behavior/neurological

impaired swimming ( J:5286 )

stereotypic behavior ( J:64107 )

• abnormal behavior like Mcoln3^Va/Mcoln3⁺

circling ( J:5286 )

• circling is described as vigorous

growth/size/body

decreased body size ( J:5286 )

• somewhat smaller than the Va^J homozygous mice

hearing/vestibular/ear

deafness ( J:5286 )

reproductive system

reduced fertility ( J:5286 )

• only one male bred at 10 months of age

integument

variegated coat color ( J:64107 )

• mostly white with patches of dilute color like Mcoln3^Va-J/Mcoln3^Va-J

white spotting ( J:5286 )