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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atrtm1Ofc
targeted mutation 1, Oscar Fernandez-Capetillo
MGI:4355008
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atrtm1Ofc/Atrtm1Ofc Not Specified MGI:4355020
cx2
Atrtm1Ofc/Atrtm1Ofc
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129S2/SvPas MGI:4355022


Genotype
MGI:4355020
hm1
Allelic
Composition
Atrtm1Ofc/Atrtm1Ofc
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrtm1Ofc mutation (1 available); any Atr mutation (85 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice by before 6 months of age
• fewer than expected mice are born
• mice exhibit signs of premature aging such as cachexia, graying hair, kyphosis, osteoporosis, accumulation of fat in the bone marrow, decreased hair follicles and thinner epidermis prior to premature death at less than 6 months of age

reproductive system
• degenerating in newborn mice
• impaired

cellular
• mouse embryonic fibroblasts and E13.5 whole embryos exhibit replicative stress-initiated DNA damage response unlike wild-type cells
• adult tissues exhibit a marginal increase in replicative stress-initiated DNA damage response
• embryonic and newborn brains exhibit apoptosis and replicative stress in replicating areas unlike in wild-type mice
• more mouse embryonic fibroblasts accumulate at G2 than wild-type cells
• embryonic and newborn brains exhibit apoptosis and replicative stress in replicating areas unlike in wild-type mice
• treatment of mouse embryonic fibroblasts with PIKK inhibitors increased apoptosis compared to similarly treated wild-type cells
• in mouse embryonic fibroblasts
• at metaphase in mouse embryonic fibroblasts unlike in wild-type cells

skeleton
• indentations of the sutures between the cranial bones are reduced compared to in wild-type mice
• 6 of 9 mice exhibit a deficient closure of the fontanelles unlike in wild-type mice
• at 2 months of age
• at 2 months, mice exhibit an accumulation of fat in the bone marrow unlike wild-type mice

growth/size/body
• receding forehead
• mice exhibit dysmorphic heads with receding forehead compared with wild-type mice
• at 3 months, head circumference is reduced compared to in wild-type mice

nervous system
• mice develop brain cysts unlike wild-type mice
• at 6 weeks, mice exhibit severe loss of astrocytes at the corpus callosum unlike in wild-type mice

homeostasis/metabolism
• mouse embryonic fibroblasts and E13.5 whole embryos exhibit replicative stress-initiated DNA damage response unlike wild-type cells
• adult tissues exhibit a marginal increase in replicative stress-initiated DNA damage response
• embryonic and newborn brains exhibit apoptosis and replicative stress in replicating areas unlike in wild-type mice

immune system
• thymus weight is decreased and not restored by transfer of wild-type bone marrow

liver/biliary system

embryo
• placentas exhibit an accumulation of necrotic areas and an overall loss of cellularity unlike wild-type placenta

respiratory system

hematopoietic system
• thymus weight is decreased and not restored by transfer of wild-type bone marrow
• in young mice, the number of long-term hematopoietic stem cells is high while the number of multipotent progenitors is low compared to in wild-type mice
• when bone marrow cells are transplanted into irradiated mice reconstitution of the granulocyte population occurs but stem cell niches are compromised

craniofacial
• indentations of the sutures between the cranial bones are reduced compared to in wild-type mice
• 6 of 9 mice exhibit a deficient closure of the fontanelles unlike in wild-type mice
• receding forehead
• mice exhibit dysmorphic heads with receding forehead compared with wild-type mice

endocrine/exocrine glands
• thymus weight is decreased and not restored by transfer of wild-type bone marrow
• degenerating in newborn mice

pigmentation

integument

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Seckel syndrome DOID:0050569 OMIM:PS210600
J:151542




Genotype
MGI:4355022
cx2
Allelic
Composition
Atrtm1Ofc/Atrtm1Ofc
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrtm1Ofc mutation (1 available); any Atr mutation (85 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (155 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive beyond 2 months
• mice exhibit a more severe premature aging syndrome than in Atrtm1Ofc homozygotes

skeleton

growth/size/body
• more severe than in Atrtm1Ofc homozygotes

cellular
• embryos exhibit replicative stress-initiated DNA damage response unlike wild-type mice
• apoptosis in the whole embryos is greater than in Atrtm1Ofc homozygotes

homeostasis/metabolism
• embryos exhibit replicative stress-initiated DNA damage response unlike wild-type mice

craniofacial

hematopoietic system

embryo
• apoptosis in the whole embryos is greater than in Atrtm1Ofc homozygotes





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory