Phenotypes associated with this allele

• Allele Symbol: Kmt2a^tm1(AFF1)Ksy
• Allele Name: targeted mutation 1, John H Kersey
• Allele ID: MGI:3663920
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Kmt2a^tm1(AFF1)Ksy/Kmt2a^+	involves: 129S1/Sv * C57BL/6 * FVB	MGI:3712960

Genotype
MGI:3712960

ht1

• Allelic Composition: Kmt2a^tm1(AFF1)Ksy/Kmt2a⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB

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

mortality/aging

premature death ( J:110241 )

• moribund mice (20 of 38 mice) were euthanized within a 22 month period of observation during which no wild-type mice died

hematopoietic system

enlarged spleen ( J:110241 )

• 7.3-fold in moribund mice

abnormal blood cell morphology/development ( J:110241 )

• immature cells are found in the blood

• moribund mice have blasts in their blood, exhibit benign lymphoid and myeloid hyperplasia in the spleen and bone marrow and exhibit myeloid disease

myeloid hyperplasia ( J:110241 )

• moribund mice exhibit myeloid hyperplasia in the spleen and bone marrow

increased leukocyte cell number ( J:110241 )

• 7.2x10³+/-1.2x10³/uL compared to 3.9x10³+/-1.0x10³/uL in wild-type mice

• counts are higher in moribund mice (10.4x10³+/-0.6x10³uL compared to 2.4x10³+/-0.2x10³uL in wild-type)

increased neutrophil cell number ( J:110241 )

increased monocyte cell number ( J:110241 )

• in moribund mice

abnormal lymphocyte morphology ( J:110241 )

• mice have the highest total number of lymphocytes

increased pro-B cell number ( J:110241 )

• pro-B cell colony forming units in vivo are significantly higher than in Mll1^tm2Thr homozygotes and wild-type mice

neoplasm

increased leukemia incidence ( J:110241 )

• myeloproliferative disorders (MPD)-like myeloid leukemia was detected in one mouse

increased B cell derived lymphoma incidence ( J:110241 )

• in moribund mice

increased malignant tumor incidence ( J:110241 )

• 20 of 38 mice develop hematologic malignancies with a mean time to development of 520 days

• lymphoid malignancy affected the spleen, lymph nodes and often liver, lung, intestine or kidney but not the blood

• one moribund mouse had a lymphoid malignancy in the spleen

increased spleen neoplasm incidence ( J:110241 )

• one moribund mouse had a lymphoid malignancy in the spleen

behavior/neurological

abnormal behavior ( J:110241 )

• in moribund mice

hunched posture ( J:110241 )

• in moribund mice

growth/size/body

abnormal facial morphology ( J:110241 )

• mice have blunt faces

short snout ( J:110241 )

big ears ( J:110241 )

decreased birth body size ( J:110241 )

• mice are small at birth

decreased body weight ( J:110241 )

• at 5 weeks, mice weigh 13.0g compared to wild-type mice that weigh 17.4g

enlarged spleen ( J:110241 )

• 7.3-fold in moribund mice

craniofacial

abnormal facial morphology ( J:110241 )

• mice have blunt faces

short snout ( J:110241 )

big ears ( J:110241 )

limbs/digits/tail

abnormal tail position or orientation ( J:110241 )

• high-set tail

immune system

enlarged spleen ( J:110241 )

• 7.3-fold in moribund mice

myeloid hyperplasia ( J:110241 )

• moribund mice exhibit myeloid hyperplasia in the spleen and bone marrow

increased leukocyte cell number ( J:110241 )

• 7.2x10³+/-1.2x10³/uL compared to 3.9x10³+/-1.0x10³/uL in wild-type mice

• counts are higher in moribund mice (10.4x10³+/-0.6x10³uL compared to 2.4x10³+/-0.2x10³uL in wild-type)

increased neutrophil cell number ( J:110241 )

increased monocyte cell number ( J:110241 )

• in moribund mice

abnormal lymphocyte morphology ( J:110241 )

• mice have the highest total number of lymphocytes

increased pro-B cell number ( J:110241 )

• pro-B cell colony forming units in vivo are significantly higher than in Mll1^tm2Thr homozygotes and wild-type mice

lymphoid hyperplasia ( J:110241 )

• in the spleen and bone marrow of moribund mice

• lymphoid tumors arise from follicular centers

hearing/vestibular/ear

big ears ( J:110241 )

integument

rough coat ( J:110241 )

• moribund mice have rough coat