Mouse Strain information
APB ID 1357
Added 22/06/2007
Last Edited 11/05/2014
Strain name: B6.129T2(FVB)-Atmtm1Mfl/Apb
Nickname: ATM-ΔSR1
Strain designation name: B6.129T2(FVB)-Atmtm1Mfl/Apb
Genetics
Strain Types Mutant strain
Congenic
Genetic Details Targeted knockout
Mode of Inheritance Semi-dominant
1.  Affected Gene Name: ataxia telangiectasia mutated homolog (human)  
Chromosome 9
Affected Gene Symbol Atm
Protein expression of altered gene: Normal
Genetic alteration of gene: A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected.
Location on chromosome (bp): 53247254-53344845 bp, - strand (From VEGA annotation of NCBI Build 37)
MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:107202
Synonyms C030026E19Rik
Allele Name targeted mutation 1, Martin F Lavin
Allele Symbol Atmtm1Mfl
MGI Allele Accession ID MGI:2181756
Allele synonyms: Atm-deltaSRI, deltaSRI, SRI
Mutant Construction Technique CRE recombinase-loxP technology
Phenotype
Phenotype Homozygous State Premature death: 50% mortality by 40 weeks of age Decreased body size: smaller size persists through adulthood Postnatal growth retardation: 20% growth reduction in males and 18% reduction in females from birth to 45 days of age. Increased tumor incidence: mice dying after 40 weeks of age usually have tumors that are not thymic lymphomas Thymic lymphoma: found in all mice dying before 40 weeks, diverse cell types involved, spongy tumors with a high proportion of cells undergoing apoptosis Abnormal immune system cell morphology: occasional increase in thymocyte size. Abnormal T lymphocyte development: lymph node T cells are primarily at early stages of development. Increased double-negative T cell count: occurs at random Abnormal effector T cell morphology/development: randomly observed increases in single positive T cells. Decreased thymocyte number: 10% reduction in thymocytes, 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3. Abnormal immune system organ morphology: enlarged spleen: usually found in mice dying after 40 weeks of age. small spleen: in mice under 40 weeks of age small thymus small lymph nodes Abnormal chromosome morphology: 3 fold increase in radiation induced chromosomal aberrations. Increased cellular sensitivity to ionizing radiation: increased sensitivity of thymocytes and splenocytes to ionizing radiation. Seminiferous tubule degeneration: tubules disrupted Abnormal testis development: poorly developed Abnormal gametogenesis: abnormal oogenesis: disrupted, lack of maturing follicles and oocytes. Abnormal spermatogenesis: disrupted spermatogenesis, degenerating spermatocytes, loss of spermatids Nervous system phenotype: no gross neuronal degeneration at time points between 2 and 16 months of age. Abnormal Purkinje cell morphology: 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 Seminiferous tubule degeneration: tubules disrupted
Phenotype Heterozygous State Increased tumor incidence: average age at onset 18.6 months, varying tumor types including dermatoid cysts adenoma: 13% of total leukemia: 5% of total lymphoma:24% of total ovary tumor: 8% of total sarcoma: 32% of total, half of sarcomas are in Mammary glands
Genetic Background Currently Maintained C57BL/6
Strain identification
How is this strain characterised? Genotyping
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Associated IP rights? No
Does it Model a Human Condition? Yes
Applicable Research Areas Models for human disease
Endocrine deficiency
Neurobiology
Cell biology
Developmental biology
Haematology
Reproduction
Internal/organ
Apoptosis
Cancer
Immunology and inflammation
Keywords
  • ataxia telangiectasia
  • lymphoma
  • T cell
  • spermatogenesis
  • thymocyte
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 10 mice)

APB stock genotyped verified by: Unverified
Are live mice available? Unknown
MTA needs to be signed? Yes


   

 


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