Mouse Genome Informatics
hm1
    Atmtm1Mfl/Atmtm1Mfl
involves: 129T2/SvEms * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 50% mortality by 40 weeks of age

growth/size
• smaller size persists through adulthood
• 20% growth reduction in males and 18% reduction in females from birth to 45 days of age

tumorigenesis
• mice dying after 40 weeks of age usually have tumors that are not thymic lymphomas
• found in all mice dying before 40 weeks
• diverse cell types involved
• spongy tumors with a high proportion of cells undergoing apoptosis

immune system
• occasional increase in thymocyte size
• randomly observed increases in single positive T cells
• lymph node T cells are primarily at early stages of development
• 10% reduction in thymocytes
• 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3
• usually found in mice dying after 40 weeks of age
• in mice under 40 weeks of age

cellular
• 3 fold increase in radiation induced chromosomal aberrations
• increased sensitivity of thymocytes and splenocytes to ionizing radiation

reproductive system
• tubules disrupted (J:69726)
• poorly developed (J:69726)
• disrupted (J:69726)
• lack of maturing follicles and oocytes (J:69726)
• disrupted spermatogenesis (J:69726)
• loss of spermatids (J:69726)
• degenerating spermatocytes (J:69726)

nervous system
N
• no gross neuronal degeneration at time points between 2 and 16 months of age (J:69726)
• survival of Purkinje cells in culture less than 60% of controls at 4 days and about 40% at 10 day
• survival of cultured cells improves if cultured with cerebellar astroglial cells
• develop simpler dendritic arboritization with reduced secondary branching
• nitroxide free radicals improve survival and arborization

endocrine/exocrine glands
• tubules disrupted (J:69726)
• poorly developed (J:69726)
• 10% reduction in thymocytes
• 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3

hematopoietic system
• 10% reduction in thymocytes
• 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3
• randomly observed increases in single positive T cells
• lymph node T cells are primarily at early stages of development
• usually found in mice dying after 40 weeks of age
• in mice under 40 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Ataxia-Telangiectasia; AT 208900 J:69726


Mouse Genome Informatics
ht2
    Atmtm1Mfl/Atm+
involves: 129T2/SvEms * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• elevated tumor incidence
• average age at onset 18.6 months
• varying tumor types including dermatoid cysts
• 32% of total
• half of sarcomas are in Mammary glands
• 8% of total (J:78527)