wl Spontaneous Allele Detail MGI Mouse (MGI:1856271)

wl
Spontaneous Allele Detail

Nomenclature

Symbol:	wl
Name:	wabbler-lethal; wabbler lethal
MGI ID:	MGI:1856271
Synonyms:	Wl
Gene:	wl Location: unknown Genetic Position: Chr14, Syntenic

Mutation
origin

Strain of Origin:

STOCK pi

Mutation
description

Allele Type:	Spontaneous
Mutation:	Undefined
	A heterozygous effect is observed in the presence of unspecified genetic modifiers.
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any wl Mutation:	4 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2	ht3
behavior/neurological			√	√
behavior/neurological phenotype			N
abnormal reflex			√
limb grasping			√
tremors			√
abnormal motor coordination/ balance			√	√
ataxia			√	√
impaired limb coordination			√
abnormal gait			√
		hm1	hm2	ht3
growth/size		√
decreased body weight		√
		hm1	hm2	ht3
hearing/vestibular/ear			N
hearing/vestibular/ear phenotype			N
		hm1	hm2	ht3
homeostasis/metabolism			√
abnormal circulating amino acid level			√
hypoglycemia			√
abnormal enzyme/ coenzyme level			√
		hm1	hm2	ht3
lethality/postnatal			√
lethality at weaning			√
		hm1	hm2	ht3
nervous system		√	√	√
nervous system phenotype			N
optic nerve degeneration		√
demyelination			√	√
		hm1	hm2	ht3
vision/eye		√
optic nerve degeneration		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	wl/wl	involves: C57BL/6J
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 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
Genotype	Allelic Composition	Genetic Background
hm2	wl/wl	Not Specified
nervous system nervous system phenotype (J:13068, J:15162) 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) lethality/postnatal lethality at weaning (J:13068) most homozygotes die by wean age, with males dying at approximately 3 weeks of age and females dying approximately a week later behavior/neurological behavior/neurological phenotype (J:13068) 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:15162, J:13068) 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) 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 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
Genotype	Allelic Composition	Genetic Background
ht3	wl/wl⁺	Not Specified
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)

References

Original:	J:13068 Dickie MM et al., "A juvenile wabbler-lethal in the house mouse." J Hered 1952;43():283-286
All:	8 reference(s)

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