About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atmtm1Pmc
targeted mutation 1, Peter J McKinnon
MGI:1933746
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atmtm1Pmc/Atmtm1Pmc B6.Cg-Atmtm1Pmc MGI:5644542
hm2
Atmtm1Pmc/Atmtm1Pmc involves: 129X1/SvJ * C57BL/6 MGI:2175710
hm3
Atmtm1Pmc/Atmtm1Pmc Not Specified MGI:3612079
ht4
Atmtm1Pmc/Atm+ B6.Cg-Atmtm1Pmc MGI:5644543
cn5
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Pmc/Lig4tm1Pmc
Tg(Nes-cre)1Kln/0
involves: 129S1/SvImJ * C57BL/6 * SJL MGI:3831182
cx6
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Icrf/Lig4tm1Icrf
either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ) MGI:3655292
cx7
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Icrf/Lig4+
either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ) MGI:3655373
cx8
Atmtm1Pmc/Atm+
Lig4tm1Icrf/Lig4tm1Icrf
either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ) MGI:3655374
cx9
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Icrf/Lig4tm1Icrf
involves: 129 MGI:3831183
cx10
Atmtm1Pmc/Atmtm1Pmc
Trp73tm2Mak/Trp73tm2Mak
involves: 129P2/OlaHsd * C57BL/6J MGI:4442801
cx11
Xrcc2tm1Pmc/Xrcc2tm1Pmc
Atmtm1Pmc/Atmtm1Pmc
involves: 129S1/Sv MGI:3655295


Genotype
MGI:5644542
hm1
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Genetic
Background
B6.Cg-Atmtm1Pmc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice exhibit glucose intolerance
• rosiglitazone treatment or metformin treatment improve glucose intolerance in mutants
• reduction in serum adiponectin levels
• rosiglitazone, but not metformin, treatment increases serum adiponectin levels in mutants

adipose tissue
• decrease in the amount of intrascapular and subcutaneous fat tissue and an increase in the amount of visceral fat tissue
• mouse embryonic fibroblasts (MEFs) fail to differentiate into adipocytes in vitro
• rosiglitazone treatment restores adipocyte differentiation in MEFs

behavior/neurological

cellular
• mouse embryonic fibroblasts (MEFs) fail to differentiate into adipocytes in vitro
• rosiglitazone treatment restores adipocyte differentiation in MEFs
• MEFs re-enter the cell cycle normally after differentiation stimulation, but the cell cycle is not arrested at 8 days after differentiation stimulation as seen in wild-type MEFs undergoing terminal differentiation

integument

Mouse Models of Human Disease
OMIM ID Ref(s)
Ataxia-Telangiectasia; AT 208900 J:222034




Genotype
MGI:2175710
hm2
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• ionizing radiation fails to induce cell death; irradiation-induced cell death is almost absent in the hippocampal dentate gyrus, cerebellum, and cerebral cortex compared to wild-type
• only occasional dead cells are found in the external granule layer of the cerebellum whereas widespread cell death is observed in wild-type after irradiation
• in the retina no apoptosis is seen in the center of the retina compared to wild-type, but apoptosis occurs in the periphery of the irradiated retina of mutant and wild-type mice
• cell death in the subventricular zone after irradiation is present but reduced compared to wild-type

reproductive system
• mice are sterile

neoplasm
• mice are prone to lymphoma

Mouse Models of Human Disease
OMIM ID Ref(s)
Ataxia-Telangiectasia; AT 208900 J:47752




Genotype
MGI:3612079
hm3
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mutant mouse embryonic fibroblasts (MEFs) show radiation-resistant DNA synthesis following ionizing radiation, indicating impaired intra-S-phase checkpoint
• G1/S-phase checkpoint is defective in gamma-irradiated thymic cells
• thymocytes are more resistant than wild-type thymocytes to gamma radiation-induced apoptosis but more sensitive than either Chek2tm1Mak or Trp53tm1Brd thymocytes




Genotype
MGI:5644543
ht4
Allelic
Composition
Atmtm1Pmc/Atm+
Genetic
Background
B6.Cg-Atmtm1Pmc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• males fed a high-fat diet exhibit glucose intolerance and insulin resistance
• however, mice fed a normal diet do not exhibit glucose intolerance
• males fed a high-fat diet exhibit glucose intolerance and insulin resistance
• however, mice fed a normal diet do not exhibit insulin resistance




Genotype
MGI:3831182
cn5
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Pmc/Lig4tm1Pmc
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S1/SvImJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Lig4tm1Pmc mutation (0 available); any Lig4 mutation (23 available)
Tg(Nes-cre)1Kln mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• at 7 to 9 months, mice develop severe hind-limb ataxia or unknown etiology

nervous system
N
• unlike in mice with Lig4tm1Pmc/Lig4tm1Pmc Tg(Nes-cre)1Kln, mice do not exhibit any increased apoptosis in the nervous system, and microcephaly is rescued




Genotype
MGI:3655292
cx6
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Icrf/Lig4tm1Icrf
Genetic
Background
either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Lig4tm1Icrf mutation (0 available); any Lig4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born alive but die within 2 hours (J:65540)
• mice do not survive past P1 (J:111068)

growth/size/body
• newborns are significantly smaller than wild-type littermates

nervous system
• double mutants show a complete attenuation of apoptosis in the nervous system at all stages between E11.5 and E15.5 (J:65540)
• almost no apoptosis is observed compared to Lig4-deficient brains (J:111068)

cellular
• double mutants show a complete attenuation of apoptosis in the nervous system at all stages between E11.5 and E15.5 (J:65540)
• almost no apoptosis is observed compared to Lig4-deficient brains (J:111068)




Genotype
MGI:3655373
cx7
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Icrf/Lig4+
Genetic
Background
either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Lig4tm1Icrf mutation (0 available); any Lig4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• extensive apoptosis occurs in the spinal cord at E11.5 and the developing cortex at E14.5

cellular
• extensive apoptosis occurs in the spinal cord at E11.5 and the developing cortex at E14.5




Genotype
MGI:3655374
cx8
Allelic
Composition
Atmtm1Pmc/Atm+
Lig4tm1Icrf/Lig4tm1Icrf
Genetic
Background
either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Lig4tm1Icrf mutation (0 available); any Lig4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• extensive apoptosis occurs in the spinal cord at E11.5 and the developing cortex at E14.5

cellular
• extensive apoptosis occurs in the spinal cord at E11.5 and the developing cortex at E14.5




Genotype
MGI:3831183
cx9
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Lig4tm1Icrf/Lig4tm1Icrf
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Lig4tm1Icrf mutation (0 available); any Lig4 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cellular
• ionizing radiation-induced apoptosis in the developing nervous system is almost completely blocked




Genotype
MGI:4442801
cx10
Allelic
Composition
Atmtm1Pmc/Atmtm1Pmc
Trp73tm2Mak/Trp73tm2Mak
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Trp73tm2Mak mutation (0 available); any Trp73 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• the increased apoptosis in response to DNA damaging agents is reversed compared to Trp73 tm2Mak single mutants, with cells showing reisistance to apoptosis similar to that in Atmtm1Pmc single mutants

immune system
• the increased apoptosis in response to DNA damaging agents is reversed compared to Trp73 tm2Mak single mutants, with cells showing reisistance to apoptosis similar to that in Atmtm1Pmc single mutants

cellular
• the increased apoptosis in response to DNA damaging agents is reversed compared to Trp73 tm2Mak single mutants, with cells showing reisistance to apoptosis similar to that in Atmtm1Pmc single mutants
• the increased thymocyte apoptosis in response to gamma-irradiation is reversed compared to mice homozygous for Trp73 tm2Mak single mutants, with cells showing reisistance to apoptosis similar to that in Atmtm1Pmc single mutants

endocrine/exocrine glands
• the increased apoptosis in response to DNA damaging agents is reversed compared to Trp73 tm2Mak single mutants, with cells showing reisistance to apoptosis similar to that in Atmtm1Pmc single mutants




Genotype
MGI:3655295
cx11
Allelic
Composition
Xrcc2tm1Pmc/Xrcc2tm1Pmc
Atmtm1Pmc/Atmtm1Pmc
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Pmc mutation (0 available); any Atm mutation (89 available)
Xrcc2tm1Pmc mutation (1 available); any Xrcc2 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos are recovered at the same frequency as Xrcc2 single mutants indicating Atm deficiency does not provide a survival advantage





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory