Mouse Genome Informatics
involves: 129S6/SvEvTac * Black Swiss
phenotype observed in females
phenotype observed in males
N normal phenotype

Cross section through seminiferous tubule of +/+ and Atmtm1Led/Atmtm1Led mice

• 100% mortality by 40 weeks of age


immune system
• fourfold decrease in CD4+CD8- single positive cells

reproductive system
• testes were structurally abnormal
• lack of maturing sperm within the seminiferous tubules and of mature sperm in the tubule lumen, the epididymis, and ductus deferens

• some develop malignant thymomas between 3 and 4 months of age (J:36561)
• mostly of double positive T cells (J:69726)

• 3 fold increase in radiation induced chromosomal aberrations
• increased sensitivity of thymocytes and splenocytes to ionizing radiation
• fibroblasts exhibited nearly 6.5-fold more chromosomal breaks per metaphase than controls

nervous system
• 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
• testes were structurally abnormal

hematopoietic system
• fourfold decrease in CD4+CD8- single positive cells

Mouse Models of Human Disease
Ataxia-Telangiectasia; AT 208900 J:36561