Phenotypes Associated with This Genotype

Genotype
MGI:6231210

• Allelic Composition: Tg(H2-K-Hmga1)#Lmsr/0
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

premature death ( J:90252 )

• mice die between 1 and 8.5 months of age, with a mean age of death of 4.8 +/- 2.6 months

growth/size/body

visceromegaly ( J:90252 )

• mice develop organomegaly and die between 1 and 8.5 months of age

neoplasm

increased leukemia incidence ( J:121308 )

♀ • all females have leukemia and/or lymphoma at the time of death

increased T cell acute lymphoblastic leukemia incidence ( J:90252 )

• presence of abnormal lymphoblasts in the bone marrow, spleen, and peripheral blood in most mice, suggesting a leukemia-like process

• abnormal lymphoblasts are also are seen in the liver, kidneys, and lungs

• tumors express T-cell markers

• all mice have at least 2 organs affected, with most showing multiorgan involvement

increased lymphoma incidence ( J:90252 , J:121308 )

• all mice develop lymphoid malignancy at a mean age of 9.6 +/- 2.4 months (J:90252)

• all mice show lymphoma in the spleen (J:90252)

• 20 of 23 mice show lymphoma in the thymus (J:90252)

• 21 of 23 mice show lymphoma in the bone marrow (J:90252)

• 21 of 24 mice show lymphoma in the lymph nodes (J:90252)

• 18 of 23 mice show gut-associated lymphoid tissue (J:90252)

♀ • all females have leukemia and/or lymphoma at the time of death (J:121308)

increased uterus tumor incidence ( J:121308 )

♀ • by 2 months of age, uteri are abnormal with mild enlargement and development of early adenosarcoma-like changes which progress to fully developed tumors by 6-12 months of age

♀ • all female founders develop uterine tumors at a mean age of 4.2 +/- 0.6 months

♀ • all third generation females develop uterine tumors at a mean age of 8.1 +/- 2.4 months

♀ • uteri show large, polypoid intracavitary endometrial tumors resembling human uterine adenosarcomas

♀ • tumors are comprised of an overgrowth of endometrial stroma accompanied by benign-appearing endometrial type glands

♀ • however, no metastatic uterine tumors are seen

increased uterus leiomyoma incidence ( J:121308 )

♀ • one female developed multiple nodules of benign-appearing smooth muscle in the myometrium resembling human uterine leiomyomas

muscle

increased uterus leiomyoma incidence ( J:121308 )

♀ • one female developed multiple nodules of benign-appearing smooth muscle in the myometrium resembling human uterine leiomyomas

behavior/neurological

decreased locomotor activity ( J:90252 )

• mice show decreased activity with disease progression

digestive/alimentary system

abnormal intestine morphology ( J:184301 )

• intestines are hyperemic with a thickened mucosa and increased weight at necropsy

• both large and small intestines exhibit increased proliferation, ectopic crypt formation, and polyp formation

increased intestinal mucosa thickness ( J:184301 )

rectal prolapse ( J:90252 )

• 4 mice develop rectal or cervical prolapse

intestine polyps ( J:184301 )

• polyp formation in both large and small intestines

hematopoietic system

increased leukocyte cell number ( J:90252 )

• blood counts show a pronounced leukocytosis

immune system

increased leukocyte cell number ( J:90252 )

• blood counts show a pronounced leukocytosis

reproductive system

increased uterus tumor incidence ( J:121308 )

♀ • by 2 months of age, uteri are abnormal with mild enlargement and development of early adenosarcoma-like changes which progress to fully developed tumors by 6-12 months of age

♀ • all female founders develop uterine tumors at a mean age of 4.2 +/- 0.6 months

♀ • all third generation females develop uterine tumors at a mean age of 8.1 +/- 2.4 months

♀ • uteri show large, polypoid intracavitary endometrial tumors resembling human uterine adenosarcomas

♀ • tumors are comprised of an overgrowth of endometrial stroma accompanied by benign-appearing endometrial type glands

♀ • however, no metastatic uterine tumors are seen

increased uterus leiomyoma incidence ( J:121308 )

♀ • one female developed multiple nodules of benign-appearing smooth muscle in the myometrium resembling human uterine leiomyomas

abnormal endometrium morphology ( J:121308 )

♀ • endometrial stroma has greatly increased volume with variable degrees of hypercellularity and edema and the epithelial component shows foci of glandular crowding and dilation

abnormal uterine cervix morphology ( J:90252 )

♀ • 4 mice develop rectal or cervical prolapse

female infertility ( J:121308 )

♀ • all females are infertile

♀ • however, males exhibit normal fertility

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lymphoma		DOID:0060058		J:90252
T-cell acute lymphoblastic leukemia		DOID:5603		J:90252
uterine cancer		DOID:363		J:121308