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Phenotypes Associated with This Genotype
Genotype
MGI:3838969
Allelic
Composition
Atp8a2wl/Atp8a2wl
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp8a2wl mutation (2 available); any Atp8a2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die by wean age, with males dying at approximately 3 weeks of age and females dying approximately a week later

nervous system
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)
• 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
N
• can orient in water and swim
• no reaction to pinching of the tail
• when homozyogtes are lifted by the tail, the hind feet lock together in a spasm
• swaying of the body, dragging of the hind limbs and progressive incoordination of the limbs when walking
• 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)

hearing/vestibular/ear
N
• normal hearing and auditory reflexes

homeostasis/metabolism
• 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
• 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
• mice are hypoglycemic from 20 days until death
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory