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Phenotypes Associated with This Genotype
Genotype
MGI:3835576
Allelic
Composition
Kmt2etm1.1Hjf/Kmt2etm1.1Hjf
Genetic
Background
B6.129P2-Kmtetm1.1Hjf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2etm1.1Hjf mutation (1 available); any Kmt2e mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at 750 cGy, all exposed mice die compared to only 2 of 23 similarly treated wild-type mice
• however, mice reconstituted with wild-type bone marrow exhibit improved survival, and radiation sensitivity of thymocytes and E14.5 mouse embryonic fibroblasts is normal
• mice are present at normal Mendelian ratios at E18.5 but exhibit lethality during the first day after birth
• only 40% of expected embryos survive to weaning with mice dieing within the first few days of birth

reproductive system
• mice lack mature sperm and instead exhibit spermatozoa with round heads

hematopoietic system
• thymocytes are reduced 30% compared to in wild-type mice
• cells implanted into Rag2 and Il2rg null mice exhibit defects in B and T cell development unlike wild-type cells
• erythro-myeloid progenitor cells (Lin-Kit+Sca1-) bone marrow cells are reduced 40% compared to in wild-type mice
• megakaryocyte-erythrocyte progenitor cells are decreased compared to in wild-type mice
• granulocyte-monocyte progenitors are decreased compared to in wild-type mice
• thymocytes are reduced 30% compared to in wild-type mice
• DN1 cells are reduced 7-fold, DN2 3.6-fold, and the earliest thymocyte progenitor cells 16.9-fold compared to in wild-type mice
• Lin-Sca+Kit+ (LSK) cells are decreased 2-fold compared to in wild-type mice
• the total number of long-term hematopoietic stem cells (HSCs; CD34-Flt3-) is decreased 2-fold and the lymphoid-primed multipotent progenitors 4-fold compared to in wild-type mice
• the number of short term HSC (LSK CD34+Flt3-) is decreased 25% compared to in wild-type mice despite a 3-fold increase in cell cycling
• Lin- bone marrow cells are unable to rescue lethally irradiated mice unlike wild-type cells
• however, homing of Lin- bone marrow cells in irradiated wild-type mice is normal
• splenocytes are reduced 30% compared to in wild-type mice

growth/size/body
• at 6 weeks
• at 6 weeks of age, body weight is reduced compared to normal by 16% for males and 12% for females
• mice exhibit decreased body weight during pubertal growth and adulthood
• however, weight at E18.5 is normal

immune system
N
• despite decreased T cell numbers, VDJ recombination is normal
• thymocytes are reduced 30% compared to in wild-type mice
• cells implanted into Rag2 and Il2rg null mice exhibit defects in B and T cell development unlike wild-type cells
• thymocytes are reduced 30% compared to in wild-type mice
• DN1 cells are reduced 7-fold, DN2 3.6-fold, and the earliest thymocyte progenitor cells 16.9-fold compared to in wild-type mice
• splenocytes are reduced 30% compared to in wild-type mice

homeostasis/metabolism
• at 750 cGy, all exposed mice die compared to only 2 of 23 similarly treated wild-type mice
• however, mice reconstituted with wild-type bone marrow exhibit improved survival, and radiation sensitivity of thymocytes and E14.5 mouse embryonic fibroblasts is normal

endocrine/exocrine glands
• thymocytes are reduced 30% compared to in wild-type mice
• thymocytes are reduced 30% compared to in wild-type mice

cellular
• mice lack mature sperm and instead exhibit spermatozoa with round heads


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
04/16/2024
MGI 6.23
The Jackson Laboratory