Phenotypes associated with this allele

• Allele Symbol: Atcay^ji
• Allele Name: jittery
• Allele ID: MGI:1856574
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atcay^ji/Atcay^ji	JIGR	MGI:3719716
hm2	Atcay^ji/Atcay^ji	Not Specified	MGI:3032441

Genotype
MGI:3719716

hm1

• Allelic Composition: Atcay^ji/Atcay^ji
• Genetic Background: JIGR

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

mortality/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 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cayman type cerebellar ataxia		DOID:0060694	OMIM:601238	J:85793

Genotype
MGI:3032441

hm2

• Allelic Composition: Atcay^ji/Atcay^ji
• Genetic Background: Not Specified

mortality/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

dystonia ( J:14903 )

• severe muscle tetany was exhibited after the onset of impaired coordination

ataxia ( J:14903 )

• progressive impaired coordination beginning at 10 to 16 days of age

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 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

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 gland 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