All Phenotypes Atp8a2<wl> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp8a2^wl/Atp8a2^wl	involves: C57BL/6	MGI:5588364
hm2	Atp8a2^wl/Atp8a2^wl	involves: C57BL/6J	MGI:3838994
hm3	Atp8a2^wl/Atp8a2^wl	Not Specified	MGI:3838969
ht4	Atp8a2^wl/Atp8a2⁺	Not Specified	MGI:3838970

Allelic Composition	Atp8a2^wl/Atp8a2^wl
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp8a2^wl mutation (2 available); any Atp8a2 mutation (74 available)

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

nervous system

decreased retina photoreceptor cell number ( J:211318 )

• at P30 and P60

short photoreceptor outer segment ( J:211318 )

• at P30 and P60

cochlear ganglion degeneration ( J:211318 )

• at 2 months

vision/eye

vision/eye phenotype ( J:211318 )

N	• outer segment photoreceptors exhibit normal morphology

decreased retina photoreceptor cell number ( J:211318 )

• at P30 and P60

short photoreceptor outer segment ( J:211318 )

• at P30 and P60

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:211318 )

N	• outer and inner hair cells appear normal

increased or absent threshold for auditory brainstem response ( J:211318 )

• at 2 months

behavior/neurological

decreased startle reflex ( J:211318 )

Allelic Composition	Atp8a2^wl/Atp8a2^wl
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp8a2^wl mutation (2 available); any Atp8a2 mutation (74 available)

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

nervous system

optic nerve degeneration ( J:2856 )

• at 28 days of age there is primary axonal degeneration of the optic nerve, but significant dysmyelination or hypomyelination are not found in the optic nerves at this timepoint

vision/eye

optic nerve degeneration ( J:2856 )

• at 28 days of age there is primary axonal degeneration of the optic nerve, but significant dysmyelination or hypomyelination are not found in the optic nerves at this timepoint

growth/size/body

decreased body weight ( J:2856 )

• at 28 days of age the average weight of males, 6.3g, is less than half that of normal controls, 14.2g

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebellar ataxia, mental retardation and dysequlibrium syndrome		DOID:0050997	OMIM:224050 OMIM:610185 OMIM:613227 OMIM:615268	J:222308

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

mortality/aging

lethality at weaning, complete penetrance ( J:13068 )

• most homozygotes die by wean age, with males dying at approximately 3 weeks of age and females dying approximately a week later

nervous system

nervous system phenotype ( J:13068 , J:15162 )

N	• demyelination is not found in the telencephalon at 2.5 weeks of age (J:13068) • there is no myelin degeneration detected in the thalamus (J:15162)

demyelination ( J:13068 , J:15162 )

• at one week of age a small amount of myelin degeneration can be found in the ventral funiculus of the spinal cord; at two weeks of age myelin degeneration is marked in the vestibulo-spinal tracts and beginning in the spino-cerebellar tracts; and by 2.5 weeks of age very severe demyelination is found throughout the archi- and paleocerebellar systems, with heavy degeneration permeating the vestibulo-spinal tract, dorsal spinocerebellar tract, brachium conjunctivum, magnocellular red nucleus, rubrospinal tract, vestibular nerve and nuclei, juxtarestiform body, trapezoid body and the superior olivary nucleus, and moderate degeneration in the medial lemnicus, medial longitudinal fasiculus and tecto-spinal tracts (J:13068)

• in the vestibulosponal tract from the lateral vestibular nucleus to the spinal cord, and in the entering fibers of the eighth cranial nerve, the juxtaresiform body, the medullary center of the cerebellum, the medial longitudinal fasciculus, the trapezoid body, the lateral lemniscus, brachium conjunctivum, red nucleus, and the rubrospinal and tectospinal tracts (J:15162)

behavior/neurological

behavior/neurological phenotype ( J:13068 )

N	• can orient in water and swim

abnormal reflex ( J:13068 )

• no reaction to pinching of the tail

limb grasping ( J:13068 )

• when homozyogtes are lifted by the tail, the hind feet lock together in a spasm

tremors ( J:13068 )

abnormal motor coordination/balance ( J:15162 )

• swaying of the body, dragging of the hind limbs and progressive incoordination of the limbs when walking

ataxia ( J:13068 , J:15162 )

• homozygotes have difficulty in walking and when trying to walk seem to pull the hind feet along rather than pushing off with them (J:13068)

impaired limb coordination ( J:15162 )

abnormal gait ( J:13068 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:15162 )

N	• normal hearing and auditory reflexes

homeostasis/metabolism

abnormal circulating amino acid level ( J:5108 )

• plasma phenylalanine concentration rises after 18 days of age to abnormally high levels and phenylalanine loading experiments show that at 22 days of age homozygotes can not normally metabolize exogenous phenylalanine, although they can at 14 days of age

increased circulating tyrosine level ( J:5108 )

• plasma tyrosine concentration is higher than normal at 14 days of age then rapidly drops to abnormally low levels (at 26 days of age 13.36 ug/ml vs 23.12 ug/ml in heterozygotes) and plasma tryptophan levels are lower than normal at 14 days of age and become progressively lower to 26 days of age (14.13 ug/ml vs 22.18 ug/ml in heterozygotes), although loading experiments show that homozygotes handle added tyrosine and tryptophan in a manner comparable to that of heterozygous littermates

hypoglycemia ( J:14851 )

• mice are hypoglycemic from 20 days until death

abnormal enzyme/coenzyme level ( J:5108 )

• liver homogenates have decreased phenylalanine hydroxylase activity, decreased phenylalanine-sodium pyruvate transaminase activity, and increased phenylalanine-alpha-ketoglutarate transaminase activity, increased tyrosine-alpha-ketoglutarate transaminase activity, increased tryptophan-alpha-ketoglutarate activity, and increased tryptophan pyrrolase activity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebellar ataxia, mental retardation and dysequlibrium syndrome		DOID:0050997	OMIM:224050 OMIM:610185 OMIM:613227 OMIM:615268	J:222308

Allelic Composition	Atp8a2^wl/Atp8a2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp8a2^wl mutation (2 available); any Atp8a2 mutation (74 available)

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

behavior/neurological

abnormal motor coordination/balance ( J:13068 )

• symptoms are subtle and obvious only to experienced observers

• all heterozygotes are not symptomatic

ataxia ( J:270 , J:13068 )

• Background Sensitivity: heterozygous mice are distinguishable from normal mice only in exceptional cases (J:270)

• mild ataxia is characterized by the hind feet going out to the side more than normal and the body being closer to the ground (J:13068)

nervous system

demyelination ( J:13068 , J:15162 )

• at 2 weeks of age a small amount of myelin degeneration is found in the vestibulo-spinal tract and at 2.5 weeks myelin degeneration is still confined to the vestibulo-spinal pathway with the cerebellar systems unaffected (J:13068)

• moderate demyelination restricted to the vestibulospinal tract (J:15162)

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