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Phenotypes Associated with This Genotype
Genotype
MGI:5644816
Allelic
Composition
Dkc1tm1.1Pjma/Y
Genetic
Background
B6.129X1(FVB)-Dkc1tm1.1Pjma
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dkc1tm1.1Pjma mutation (0 available); any Dkc1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• marker analysis indicates an increase in DNA damage in the liver, spleen and bone marrow
• growth rate of MEFs is lower when cultured at both ambient oxygen (21%) and low (3%) oxygen, with cells growing more slowly in 21% oxygen and cells growing more slowly and entering senescence earlier than wild-type cells in 3% oxygen
• decreased growth rates of MEFs are associated with increased ROS levels and increased accumulation of DNA damage
• competitive and serial bone marrow transplantation experiments indicate that bone marrow cells from old mutants have an intrinsic proliferation defect associated with an accelerated decline in stem cell function
• however, mice show normal numbers of bone marrow cells, erythroid-committed progenitor cells, and c-Kit+, Sca-1+ and Lineage- cells at young and old ages, indicating absence of overt bone marrow cell depletion
• higher level of reactive oxygen species (ROS) accumulation in MEFs when cultured in both ambient oxygen (21%) and low (3%) oxygen, indicating cells are hypersensitive to oxygen

growth/size/body
• reduction in body weight with age

hematopoietic system
• competitive and serial bone marrow transplantation experiments indicate that bone marrow cells from old mutants have an intrinsic proliferation defect associated with an accelerated decline in stem cell function
• however, mice show normal numbers of bone marrow cells, erythroid-committed progenitor cells, and c-Kit+, Sca-1+ and Lineage- cells at young and old ages, indicating absence of overt bone marrow cell depletion
• mice exhibit a decrease in the proportion of B lymphocytes with age
• old (52-55 weeks) mice treated with N-acetyl cysteine long-term show normal numbers of B-cell proportions in peripheral blood
• mice exhibit a decrease in the proportion of T lymphocytes with age
• old (52-55 weeks) mice treated with N-acetyl cysteine long-term show normal numbers of T-cell proportions in peripheral blood

immune system
• mice exhibit a decrease in the proportion of B lymphocytes with age
• old (52-55 weeks) mice treated with N-acetyl cysteine long-term show normal numbers of B-cell proportions in peripheral blood
• mice exhibit a decrease in the proportion of T lymphocytes with age
• old (52-55 weeks) mice treated with N-acetyl cysteine long-term show normal numbers of T-cell proportions in peripheral blood

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
dyskeratosis congenita DOID:2729 OMIM:PS127550
J:217050


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
10/29/2024
MGI 6.24
The Jackson Laboratory