Phenotypes associated with this allele

• Allele Symbol: Atm^tm1Pmc
• Allele Name: targeted mutation 1, Peter J McKinnon
• Allele ID: MGI:1933746
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atm^tm1Pmc/Atm^tm1Pmc	B6.Cg-Atm^tm1Pmc	MGI:5644542
hm2	Atm^tm1Pmc/Atm^tm1Pmc	involves: 129X1/SvJ * C57BL/6	MGI:2175710
hm3	Atm^tm1Pmc/Atm^tm1Pmc	Not Specified	MGI:3612079
ht4	Atm^tm1Pmc/Atm^+	B6.Cg-Atm^tm1Pmc	MGI:5644543
cn5	Atm^tm1Pmc/Atm^tm1Pmc Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/SvImJ * C57BL/6 * SJL	MGI:3831182
cx6	Atm^tm1Pmc/Atm^tm1Pmc Lig4^tm1Icrf/Lig4^tm1Icrf	either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)	MGI:3655292
cx7	Atm^tm1Pmc/Atm^tm1Pmc Lig4^tm1Icrf/Lig4^+	either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)	MGI:3655373
cx8	Atm^tm1Pmc/Atm^+ Lig4^tm1Icrf/Lig4^tm1Icrf	either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)	MGI:3655374
cx9	Atm^tm1Pmc/Atm^tm1Pmc Lig4^tm1Icrf/Lig4^tm1Icrf	involves: 129	MGI:3831183
cx10	Atm^tm1Pmc/Atm^tm1Pmc Trp73^tm2Mak/Trp73^tm2Mak	involves: 129P2/OlaHsd * C57BL/6J	MGI:4442801
cx11	Xrcc2^tm1Pmc/Xrcc2^tm1Pmc Atm^tm1Pmc/Atm^tm1Pmc	involves: 129S1/Sv	MGI:3655295

Genotype
MGI:5644542

hm1

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc
• Genetic Background: B6.Cg-Atm^tm1Pmc

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

decreased circulating leptin level ( J:222034 )

impaired glucose tolerance ( J:222034 )

• mice exhibit glucose intolerance

• rosiglitazone treatment or metformin treatment improve glucose intolerance in mutants

insulin resistance ( J:222034 )

decreased circulating adiponectin level ( J:222034 )

• reduction in serum adiponectin levels

• rosiglitazone, but not metformin, treatment increases serum adiponectin levels in mutants

adipose tissue

decreased subcutaneous adipose tissue amount ( J:222034 )

abnormal adipose tissue distribution ( J:222034 )

• decrease in the amount of intrascapular and subcutaneous fat tissue and an increase in the amount of visceral fat tissue

abnormal fat cell differentiation ( J:222034 )

• mouse embryonic fibroblasts (MEFs) fail to differentiate into adipocytes in vitro

• rosiglitazone treatment restores adipocyte differentiation in MEFs

behavior/neurological

increased food intake ( J:222034 )

cellular

abnormal fat cell differentiation ( J:222034 )

• mouse embryonic fibroblasts (MEFs) fail to differentiate into adipocytes in vitro

• rosiglitazone treatment restores adipocyte differentiation in MEFs

abnormal cell cycle ( J:222034 )

• 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

decreased subcutaneous adipose tissue amount ( J:222034 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ataxia telangiectasia		DOID:12704	OMIM:208900	J:222034

Genotype
MGI:2175710

hm2

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

cellular

decreased cellular sensitivity to ionizing radiation ( J:47752 )

• 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

infertility ( J:47752 )

• mice are sterile

neoplasm

increased lymphoma incidence ( J:47752 )

• mice are prone to lymphoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ataxia telangiectasia		DOID:12704	OMIM:208900	J:47752

Genotype
MGI:3612079

hm3

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc
• Genetic Background: Not Specified

cellular

abnormal cell cycle checkpoint function ( J:78491 )

• 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

decreased cellular sensitivity to gamma-irradiation ( J:78491 )

• thymocytes are more resistant than wild-type thymocytes to gamma radiation-induced apoptosis but more sensitive than either Chek2^tm1Mak or Trp53^tm1Brd thymocytes

Genotype
MGI:5644543

ht4

• Allelic Composition: Atm^tm1Pmc/Atm⁺
• Genetic Background: B6.Cg-Atm^tm1Pmc

homeostasis/metabolism

impaired glucose tolerance ( J:222034 )

• males fed a high-fat diet exhibit glucose intolerance and insulin resistance

• however, mice fed a normal diet do not exhibit glucose intolerance

insulin resistance ( J:222034 )

• 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: Atm^tm1Pmc/Atm^tm1Pmc; Lig4^tm1Pmc/Lig4^tm1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/SvImJ * C57BL/6 * SJL

behavior/neurological

ataxia ( J:144172 )

• at 7 to 9 months, mice develop severe hind-limb ataxia or unknown etiology

nervous system

nervous system phenotype ( J:144172 )

N • unlike in mice with Lig4^tm1Pmc/Lig4^tm1Pmc 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: Atm^tm1Pmc/Atm^tm1Pmc; Lig4^tm1Icrf/Lig4^tm1Icrf
• Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)

mortality/aging

neonatal lethality, complete penetrance ( J:65540 , J:111068 )

• mice are born alive but die within 2 hours (J:65540)

• mice do not survive past P1 (J:111068)

growth/size/body

decreased body size ( J:65540 )

• newborns are significantly smaller than wild-type littermates

nervous system

decreased neuron apoptosis ( J:65540 , J:111068 )

• 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

decreased neuron apoptosis ( J:65540 , J:111068 )

• 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: Atm^tm1Pmc/Atm^tm1Pmc; Lig4^tm1Icrf/Lig4⁺
• Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)

nervous system

increased neuron apoptosis ( J:65540 )

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

cellular

increased neuron apoptosis ( J:65540 )

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

Genotype
MGI:3655374

cx8

• Allelic Composition: Atm^tm1Pmc/Atm⁺; Lig4^tm1Icrf/Lig4^tm1Icrf
• Genetic Background: either: (involves: 129P2/OlaHsd) or (involves: 129S1/Sv * 129X1/SvJ)

nervous system

increased neuron apoptosis ( J:65540 )

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

cellular

increased neuron apoptosis ( J:65540 )

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

Genotype
MGI:3831183

cx9

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc; Lig4^tm1Icrf/Lig4^tm1Icrf
• Genetic Background: involves: 129

mortality/aging

perinatal lethality ( J:144172 )

cellular

decreased cellular sensitivity to ionizing radiation ( J:144172 )

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

Genotype
MGI:4442801

cx10

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc; Trp73^tm2Mak/Trp73^tm2Mak
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

hematopoietic system

decreased thymocyte apoptosis ( J:157905 )

• 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 Atm^tm1Pmc single mutants

immune system

decreased thymocyte apoptosis ( J:157905 )

• 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 Atm^tm1Pmc single mutants

cellular

decreased cellular sensitivity to gamma-irradiation ( J:157905 )

• 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 Atm^tm1Pmc single mutants

decreased thymocyte apoptosis ( J:157905 )

• 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 Atm^tm1Pmc single mutants

endocrine/exocrine glands

decreased thymocyte apoptosis ( J:157905 )

• 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 Atm^tm1Pmc single mutants

Genotype
MGI:3655295

cx11

• Allelic Composition: Xrcc2^tm1Pmc/Xrcc2^tm1Pmc; Atm^tm1Pmc/Atm^tm1Pmc
• Genetic Background: involves: 129S1/Sv

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:111068 )

• embryos are recovered at the same frequency as Xrcc2 single mutants indicating Atm deficiency does not provide a survival advantage