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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Dkc1tm1.1Pjma
targeted mutation 1.1, Philip J Mason
MGI:3809481
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Dkc1tm1.1Pjma/Dkc1+ involves: 129X1/SvJ * C57BL/6 * FVB/N MGI:3809484
ot2
 		Dkc1tm1.1Pjma/Y B6.129X1(FVB)-Dkc1tm1.1Pjma MGI:5644816
ot3
 		Dkc1tm1.1Pjma/Y involves: 129X1/SvJ * C57BL/6 * FVB/N MGI:3809483


Genotype
MGI:3809484
ht1
Allelic
Composition		 Dkc1tm1.1Pjma/Dkc1+
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dkc1tm1.1Pjma mutation (0 available); any Dkc1 mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal hematopoietic system morphology/development ( J:138335 )
• cells in spleen, thymus, bone marrow, and peripheral blood expressing the wild-type protein have a growth advantage over cells expressing the mutant protein




Genotype
MGI:5644816
ot2
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 (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal cell physiology ( J:217050 )
• marker analysis indicates an increase in DNA damage in the liver, spleen and bone marrow
decreased fibroblast proliferation ( J:217050 )
• 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
decreased hematopoietic stem cell proliferation ( J:217050 )
• 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
oxidative stress ( J:217050 )
• 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
decreased body weight ( J:217050 )
• reduction in body weight with age

hematopoietic system
decreased hematopoietic stem cell proliferation ( J:217050 )
• 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
decreased B cell number ( J:217050 )
• 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
decreased T cell number ( J:217050 )
• 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
decreased B cell number ( J:217050 )
• 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
decreased T cell number ( J:217050 )
• 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




Genotype
MGI:3809483
ot3
Allelic
Composition		 Dkc1tm1.1Pjma/Y
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dkc1tm1.1Pjma mutation (0 available); any Dkc1 mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal DNA repair ( J:138335 )
• MEFs show an increase in DNA damage foci after treatment with etoposide and more foci are localized to the telomeres

hematopoietic system
hematopoietic system phenotype ( J:138335 )
N
• no signs of bone marrow failure unlike in patients with X-linked dyskeratosis congenita

homeostasis/metabolism
abnormal DNA repair ( J:138335 )
• MEFs show an increase in DNA damage foci after treatment with etoposide and more foci are localized to the telomeres

integument
integument phenotype ( J:138335 )
N
• no signs of nail dystrophy, skin pigmentation problems or other characteristics seen in patients with X-linked dyskeratosis congenita




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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory