Atcay<ji> Spontaneous Allele Detail MGI Mouse (MGI:1856574)

Atcay^ji
Spontaneous Allele Detail

Nomenclature

Symbol:	Atcay^ji
Name:	ataxia, cerebellar, Cayman type homolog (human); jittery
MGI ID:	MGI:1856574
Synonyms:	ji
Gene:	Atcay Location: Chr10:80667253-80693578 bp, - strand Genetic Position: Chr10, 43.0 cM

Mutation
origin

Strain of Origin:

BALB/c

Mutation
description

Allele Type:	Spontaneous
Mutation:	Transposon insertion
	The mutation in the jittery mouse has been identified as a B1 element insertion in exon 4 and results in a predicted protein of only 62 endogenous residues plus 21 missense residues. (J:85793)
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 Atcay Mutation:	6 strains or lines available

Expression

In Mice Carrying this Mutation:

2 assay results

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
behavior/neurological		√	√
impaired righting response		√
ataxia		√	√
dystonia		√
seizures		√
		hm1	hm2
endocrine/exocrine glands		√
abnormal adenohypophysis morphology		√
abnormal thyroid follicle morphology		√
abnormal thyroid physiology		√
		hm1	hm2
hematopoietic system		√
abnormal thymus morphology		√
abnormal thymus cortex morphology		√
abnormal thymus medulla morphology		√
		hm1	hm2
homeostasis/metabolism			√
dehydration			√
		hm1	hm2
immune system		√
abnormal thymus morphology		√
abnormal thymus cortex morphology		√
abnormal thymus medulla morphology		√
		hm1	hm2
life span/aging		√	√
premature death		√	√
		hm1	hm2
muscle		√
dystonia		√
muscle spasm		√
		hm1	hm2
nervous system		√
seizures		√
abnormal adenohypophysis morphology		√
abnormal brain white matter morphology		√
motor neuron degeneration		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Atcay^ji/Atcay^ji	BALB/c
life span/aging premature death (J:14903) as seizures and impaired coordination become more severe, the mice lose the ability to obtain food and die, usually by 4 weeks old, from starvation and thirst behavior/neurological impaired righting response (J:14903) animals exhibited difficulty righting themselves after being placed on their backs ataxia (J:14903) progressive impaired coordination beginning at 10 to 16 days of age dystonia (J:14903) severe muscle tetany was exhibited after the onset of impaired coordination seizures (J:14903) seizures become progressively worse with age endocrine/exocrine glands abnormal adenohypophysis morphology (J:14903) anterior pituitary lobes were congested and hypercellular abnormal thyroid follicle morphology (J:14903) thyroid glands appear similar to controls at 11 days of age, but at 33 days of age the colloid is less homogeneous, the secreting cells are abnormally shaped and placed, and the connective tissue displays hyperplasia abnormal thyroid physiology (J:14903) hypoactive thyroid involuted thymus glands; involution is first noted coincident with the onset of impaired coordination immune system abnormal thymus morphology (J:14903) abnormal thymus cortex morphology (J:14903) the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted abnormal thymus medulla morphology (J:14903) the thymic medulla is filled with cell debris and pyknotic nuclei muscle dystonia (J:14903) severe muscle tetany was exhibited after the onset of impaired coordination muscle spasm (J:14903) severe muscle tetany was exhibited after the onset of impaired coordination nervous system seizures (J:14903) seizures become progressively worse with age abnormal adenohypophysis morphology (J:14903) anterior pituitary lobes were congested and hypercellular abnormal brain white matter morphology (J:28103) polycystic alterations in white matter of the brain were noted motor neuron degeneration (J:14903) degeneration of the motor neurons of the lumbar spinal cord was noted; cells appeared vacuolated hematopoietic system abnormal thymus morphology (J:14903) abnormal thymus cortex morphology (J:14903) the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted abnormal thymus medulla morphology (J:14903) the thymic medulla is filled with cell debris and pyknotic nuclei
Genotype	Allelic Composition	Genetic Background
hm2	Atcay^ji/Atcay^ji	JIGR
life span/aging premature death (J:85793) mice die at 3 to 4 weeks of dehydration and starvation behavior/neurological ataxia (J:85793) severe truncal and limb ataxia at 3 weeks mice are unable to walk or to right themselves homeostasis/metabolism dehydration (J:85793)

References

Original:	J:14903 DeOme KB, "A new recessive lethal mutation in mice" Univ California Publ Zool 1945;53(2):41-66
All:	4 reference(s)

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