Phenotypes Associated with This Genotype

Genotype
MGI:2175708

• Allelic Composition: Atm^tm1Led/Atm^tm1Led
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

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

Cross section through seminiferous tubule of +/+ and Atm^tm1Led/Atm^tm1Led mice

mortality/aging

premature death ( J:69726 )

• 100% mortality by 40 weeks of age

growth/size/body

decreased body size ( J:36561 )

decreased body weight ( J:36561 )

immune system

thymus cortex hypoplasia ( J:36561 )

small thymus ( J:36561 )

abnormal T cell differentiation ( J:36561 )

increased double-positive T cell number ( J:36561 )

decreased CD4-positive, alpha-beta T cell number ( J:36561 )

• fourfold decrease in CD4+CD8- single positive cells

reproductive system

azoospermia ( J:36561 )

♂ • lack of maturing sperm within the seminiferous tubules and of mature sperm in the tubule lumen, the epididymis, and ductus deferens

abnormal testis morphology ( J:36561 )

♂ • testes were structurally abnormal

small testis ( J:36561 )

♂

male infertility ( J:36561 )

♂

neoplasm

increased T cell derived lymphoma incidence ( J:69726 )

• mostly of double positive T cells

increased thymoma incidence ( J:36561 )

• some develop malignant thymomas between 3 and 4 months of age

cellular

azoospermia ( J:36561 )

♂ • lack of maturing sperm within the seminiferous tubules and of mature sperm in the tubule lumen, the epididymis, and ductus deferens

abnormal chromosome morphology ( J:69726 )

• 3 fold increase in radiation induced chromosomal aberrations

increased cellular sensitivity to ionizing radiation ( J:69726 )

• increased sensitivity of thymocytes and splenocytes to ionizing radiation

chromosome breakage ( J:36561 )

• fibroblasts exhibited nearly 6.5-fold more chromosomal breaks per metaphase than controls

nervous system

abnormal Purkinje cell morphology ( J:86894 )

• survival of Purkinje cells in culture less than 60% of controls at 4 days and about 40% at 10 days

• survival of cultured cells improves if cultured with cerebellar astroglial cell

• develop simpler dendritic arboritization with reduced secondary branching

• nitroxide free radicals improve survival and arborization

endocrine/exocrine glands

thymus cortex hypoplasia ( J:36561 )

small thymus ( J:36561 )

abnormal testis morphology ( J:36561 )

♂ • testes were structurally abnormal

small testis ( J:36561 )

♂

increased T cell derived lymphoma incidence ( J:69726 )

• mostly of double positive T cells

hematopoietic system

thymus cortex hypoplasia ( J:36561 )

small thymus ( J:36561 )

abnormal T cell differentiation ( J:36561 )

increased double-positive T cell number ( J:36561 )

decreased CD4-positive, alpha-beta T cell number ( J:36561 )

• fourfold decrease in CD4+CD8- single positive cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ataxia telangiectasia		DOID:12704	OMIM:208900	J:36561