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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kmt2etm1Apa
targeted mutation 1, Samuel A Aparicio
MGI:3835772
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kmt2etm1Apa/Kmt2etm1Apa 129S6/SvEvTac-Kmt2etm1Apa MGI:3835787


Genotype
MGI:3835787
hm1
Allelic
Composition
Kmt2etm1Apa/Kmt2etm1Apa
Genetic
Background
129S6/SvEvTac-Kmt2etm1Apa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2etm1Apa mutation (0 available); any Kmt2e mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at weaning, only 15.9% of mice are homozygotes instead of the expected 25%
• at E16.5 days, 25.3% of embryos are homozygous so death must occur between E17 and P21

reproductive system
N
• female mice are fertile and able to bear live pups with a frequency indistinguishable from wild-type females
• sperm show lack of progressive motility
• sperm motility is significantly slower and mostly side-to-side motion rather than forward swimming
• seminal glands of some mice are distended possibly as the result of infection
• spermatogenesis is impaired at the level of terminal differentiation
• early gametogenesis appears to be intact
• 58% of spermatozoa from the epididymis and vas deferens display abnormal head morphology relative to 11.7% in wild-type controls
• abnormal membranous components and an apparent excess of cytoplasm are seen around some acrosomes
• forming acrosome is frequently detached from the nucleus containing the compacted chromatin
• abnormally shaped sperm nuclei and chromatin packaging defects are observed
• males show multiple defects in terminal sperm differentiation / maturation, including detachment of the acrosomal cap and impaired excess cytoplasm removal
• PAS staining revealed an excess of cytoplasmic droplets in the cauda epididymides
• male mice are infertile (J:145445)
• males caged with wild-type females fail to produce live offspring or show evidence of pregnancies (J:181000)
• however, testis weight, mating behavior, secondary sexual characteristics and sperm counts appear normal (J:181000)
• sperm bind to but are unable to fertilize oocytes in vitro as well as in vivo
• in vitro capacitated spermatozoa are impaired in zona pellucida penetration

growth/size/body
• at weaning, mean male weight is 16 g vs 19.4 g in controls and mean female weight is 17.3 g vs 15.8 g

adipose tissue
• necropsy reveals that mice have less body fat than controls

hematopoietic system
• a DNA-methyltransferase inhibitor leads to a 2.4-fold increase in total bone marrow cell numbers compared to treated controls
• when treated with this inhibitor, myeloid and lymphoid lineage cell numbers are increased in the bone marrow and white blood cell numbers are increased in the periphery
• bone marrow contains about 25% more GCSF-responsive cells in culture than controls
• this may result from a partial-block in neutrophils development and an accumulation of granulocyte progenitors in the bone marrow
• a similar phenotype results when mutant bone marrow is used to reconstitute irradiated wild-type mice
• bone marrow contains increased numbers of metamyelocytes and reduced numbers of segmented neutrophils
• a similar phenotype results when mutant bone marrow is used to reconstitute irradiated wild-type mice
• significant reductions in red blood cell count (10.1 x 109/mL vs 11.7 x 109/mL in controls)
• hematocrit is 49% vs. 57% in controls
• there is an increase in the standard deviation of the distribution of erythrocytes by their cell width (13.8% vs. 13% in controls)
• hemoglobin is reduced (15.4 g/dL vs 17.5 g/dL in controls)
• fewer neutrophils in the blood produce reactive oxygen species (ROS) in response to E. coli (18.3% vs 29% of neutrophils in controls)
• neutrophils also produce less ROS on a per cell basis than controls in response to E. coli infection

immune system
• bone marrow contains about 25% more GCSF-responsive cells in culture than controls
• this may result from a partial-block in neutrophils development and an accumulation of granulocyte progenitors in the bone marrow
• a similar phenotype results when mutant bone marrow is used to reconstitute irradiated wild-type mice
• bone marrow contains increased numbers of metamyelocytes and reduced numbers of segmented neutrophils
• a similar phenotype results when mutant bone marrow is used to reconstitute irradiated wild-type mice
• fewer neutrophils in the blood produce reactive oxygen species (ROS) in response to E. coli (18.3% vs 29% of neutrophils in controls)
• neutrophils also produce less ROS on a per cell basis than controls in response to E. coli infection
• 19% of mice under one year of age develop eye infections compared to none in wild-type controls
• 60% of mice over one year of age develop eye infections
• infections are treatable with antibiotics
• infections are accompanied by mucosal infiltrates of macrophages and neutrophils
• 19% of mice under one year of age develop eye infections compared to none in wild-type controls
• 60% of mice over one year of age develop eye infections
• infections are treatable with antibiotics
• infections are accompanied by mucosal infiltrates of macrophages and neutrophils
• seminal vesicles of one mouse was found to be infected with E. coli

vision/eye
• 19% of mice under one year of age develop eye infections compared to none in wild-type controls
• 60% of mice over one year of age develop eye infections
• infections are treatable with antibiotics
• infections are accompanied by mucosal infiltrates of macrophages and neutrophils

cellular
• 58% of spermatozoa from the epididymis and vas deferens display abnormal head morphology relative to 11.7% in wild-type controls
• abnormal membranous components and an apparent excess of cytoplasm are seen around some acrosomes
• forming acrosome is frequently detached from the nucleus containing the compacted chromatin
• abnormally shaped sperm nuclei and chromatin packaging defects are observed
• bone marrow contains about 25% more GCSF-responsive cells in culture than controls
• this may result from a partial-block in neutrophils development and an accumulation of granulocyte progenitors in the bone marrow
• a similar phenotype results when mutant bone marrow is used to reconstitute irradiated wild-type mice
• bone marrow contains increased numbers of metamyelocytes and reduced numbers of segmented neutrophils
• a similar phenotype results when mutant bone marrow is used to reconstitute irradiated wild-type mice
• sperm show lack of progressive motility
• sperm motility is significantly slower and mostly side-to-side motion rather than forward swimming

endocrine/exocrine glands
• seminal glands of some mice are distended possibly as the result of infection

homeostasis/metabolism
N
• males show no differences in mean serum testosterone levels relative to wild-type controls





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory