Phenotypes Associated with This Genotype

Genotype
MGI:3691228

• Allelic Composition: Kmt2a^tm1Clgr/Kmt2a⁺
• Genetic Background: B6.129-Kmt2a^tm1Clgr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Vertebral transformation is seen in Kmt2a^tm1Clgr/Mll1⁺ mice at 20 weeks of age

embryo

abnormal rostral-caudal axis patterning ( J:115001 )

• at E12.5 the boundary of Hoxa9 expression in the paraxial mesoderm is shifted ventrally

abnormal paraxial mesoderm morphology ( J:115001 )

skeleton

decreased rib number ( J:115001 )

• rudimentary or missing thirteenth rib in 70% of mice

vertebral transformation ( J:115001 )

thoracic vertebral transformation ( J:115001 )

• rudimentary or missing thirteenth rib indicates transformation of T13 to L1

sacral vertebral transformation ( J:115001 )

• S1 duplication in 63% of mice, indicative of S2 to S1 transformation

hematopoietic system

abnormal common myeloid progenitor cell morphology ( J:115001 )

• increase in the number of mixed colony forming units (GEMM-CFU) formed by cultured splenocytes

• cell from splenocyte colony forming assays form larger secondary colonies in replating assays and are able to form tertiary and quaternary colonies unlike wild-type cells however, in vivo cell counts in the bone marrow, spleen and blood are similar to wild type

• progenitor cells have a 2-fold increase in BrdU incorporation and a 50% increase in the amount of apoptosis

• progenitor cells are able to survive in culture for more than 4 months compared to less than 18 days for wild-type cells

abnormal myelopoiesis ( J:115001 )

• increase in the number of myeloid colony forming units (GM-CFU) formed by cultured splenocytes

increased erythroid progenitor cell number ( J:115001 )

• increase in the number of erythroid burst forming units (BFU-E) formed by cultured splenocytes

abnormal proerythroblast morphology ( J:115001 )

• 5- to 20-fold increase in the number of Ter119+ erythroid cells in the spleen

neoplasm

neoplasm ( J:115001 )

N • despite changes in hematopoiesis and Hoxa gene expression mice do not develop leukemia

immune system

abnormal myelopoiesis ( J:115001 )

• increase in the number of myeloid colony forming units (GM-CFU) formed by cultured splenocytes