About   Help   FAQ
Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Dkc1
dyskeratosis congenita 1, dyskerin
MGI:1861727
70 phenotypes from 6 alleles in 7 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background		 Annotated Term Reference
Dkc1tm1.1Pjma/Y
B6.129X1(FVB)-Dkc1tm1.1Pjma 		abnormal cell physiology J:217050
decreased B cell number J:217050
decreased body weight J:217050
decreased fibroblast proliferation J:217050
decreased hematopoietic stem cell proliferation J:217050
decreased T cell number J:217050
oxidative stress J:217050
Dkc1tm1.1Pjma/Y
involves: 129X1/SvJ * C57BL/6 * FVB/N 		abnormal DNA repair J:138335
normal hematopoietic system phenotype J:138335
normal integument phenotype J:138335
Dkc1tm1.1Pjma/Dkc1+
involves: 129X1/SvJ * C57BL/6 * FVB/N 		abnormal hematopoietic system morphology/development J:138335
Dkc1tm1Bsl/Y
involves: 129/Sv * C57BL/6 		no abnormal phenotype detected J:80494
Dkc1tm1Bsl/Dkc1+
Tg(Gata1-cre)1Sho/0
involves: 129/Sv * C57BL/6 * CD-1 		abnormal embryo development J:80494
decreased embryo size J:80494
embryonic growth arrest J:80494
embryonic lethality during organogenesis, complete penetrance J:80494
failure of initiation of embryo turning J:80494
increased trophectoderm apoptosis J:80494
transmission ratio distortion J:80494
trophectoderm cell degeneration J:80494
Dkc1tm1Bsl/Dkc1tm1Bsl
involves: 129/Sv * C57BL/6 		no abnormal phenotype detected J:80494
Dkc1tm1Bsl/Y
Tg(Gata1-cre)1Sho/0
involves: 129/Sv * C57BL/6 * CD-1 		embryonic lethality between implantation and somite formation, complete penetrance J:80494
Dkc1tm1Ppp/Dkc1+
involves: 129S1/Sv 		abnormal bone marrow cell morphology/development J:81054
abnormal cell morphology J:81054
abnormal cell physiology J:81054
abnormal definitive hematopoiesis J:81054
abnormal erythrocyte morphology J:81054
abnormal hematopoietic system physiology J:81054
abnormal immune system cell morphology J:81054
abnormal immune system organ morphology J:81054
abnormal kidney morphology J:81054
abnormal lung morphology J:81054
abnormal skin morphology J:81054
increased tumor incidence J:81054
Dkc1tm1Ppp/Y
involves: 129S1/Sv 		abnormal bone marrow cell physiology J:81054
abnormal cell physiology J:81054
abnormal definitive hematopoiesis J:81054
abnormal epidermis stratum granulosum morphology J:81054
abnormal epidermis stratum spinosum morphology J:81054
abnormal proximal convoluted tubule morphology J:81054
abnormal pulmonary alveolar parenchyma morphology J:81054
abnormal pulmonary alveolus morphology J:81054
abnormal spleen morphology J:81054
anemia J:81054
decreased B cell number J:81054
decreased bone marrow cell number J:81054
decreased common myeloid progenitor cell number J:81054
decreased erythroid progenitor cell number J:81054
decreased hemoglobin content J:81054
decreased leukocyte cell number J:81054
decreased lymphocyte cell number J:81054
decreased pre-B cell number J:81054
decreased spleen red pulp amount J:81054
decreased spleen white pulp amount J:81054
decreased telomere length J:81054
dyskeratosis J:81054
enlarged spleen J:81054
epidermal hyperplasia J:81054
extramedullary hematopoiesis J:81054
glomerulosclerosis J:81054
increased B cell derived lymphoma incidence J:81054
increased fibroblast apoptosis J:81054
increased fibrosarcoma incidence J:81054
increased lung carcinoma incidence J:81054
increased malignant tumor incidence J:81054
increased mammary adenocarcinoma incidence J:81054
increased pheochromocytoma incidence J:81054
increased pulmonary alveolus wall thickness J:81054
increased renal carcinoma incidence J:81054
increased total body fat amount J:81054
lung inflammation J:81054
pulmonary interstitial fibrosis J:81054
renal tubule atrophy J:81054
thrombocytopenia J:81054
Dkc1tm2Bsl/Y
involves: 129/Sv * C57BL/6 		no abnormal phenotype detected J:80494
Dkc1tm2Bsl/Dkc1+
Tg(Gata1-cre)1Sho/0
involves: 129/Sv * C57BL/6 * CD-1 		abnormal embryo development J:80494
decreased embryo size J:80494
embryonic growth arrest J:80494
embryonic lethality during organogenesis, complete penetrance J:80494
failure of initiation of embryo turning J:80494
increased trophectoderm apoptosis J:80494
transmission ratio distortion J:80494
trophectoderm cell degeneration J:80494
Dkc1tm2Bsl/Dkc1tm2Bsl
involves: 129/Sv * C57BL/6 		no abnormal phenotype detected J:80494
Dkc1tm2Bsl/Y
Tg(Gata1-cre)1Sho/0
involves: 129/Sv * C57BL/6 * CD-1 		embryonic lethality between implantation and somite formation, complete penetrance J:80494
Dkc1tm2Pjma/Y
chimera involves: 129X1/SvJ * C57BL/6J 		abnormal cell physiology J:149894
abnormal fertility/fecundity J:149894
Dkc1tm3Pjma/Y
involves: 129X1/SvJ * C57BL/6J 		no abnormal phenotype detected J:149894
Dkc1tm3Pjma/Dkc1tm3Pjma
involves: 129X1/SvJ * C57BL/6J 		no abnormal phenotype detected J:149894
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory