Mouse Genome Informatics
hm1
    Atmtm1Led/Atmtm1Led
involves: 129S6/SvEvTac * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

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

mortality/aging
• 100% mortality by 40 weeks of age

growth/size/body

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

reproductive system
• testes were structurally abnormal (J:36561)
(J:36561)
• lack of maturing sperm within the seminiferous tubules and of mature sperm in the tubule lumen, the epididymis, and ductus deferens (J:36561)
(J:36561)

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

cellular
• 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 (J:36561)
(J:36561)

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

Mouse Models of Human Disease
OMIM IDRef(s)
Ataxia-Telangiectasia; AT 208900 J:36561


Mouse Genome Informatics
cx2
    Atmtm1Led/Atm+
Kat8tm2Thl/Kat8+

involves: 129S1/Sv * 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• only 76% of mice survive the first year


Mouse Genome Informatics
cx3
    Atmtm1Led/Atmtm1Led
Kat8tm2Thl/Kat8+

involves: 129S1/Sv * 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice die earlier than Atmtm1Led homozygotes

growth/size/body
• mice exhibit a modest reduction in weight compared to Atmtm1Led homozygotes