Phenotypes Associated with This Genotype

Genotype
MGI:4353911

• Allelic Composition: Rbl1^tm1Mru/Rbl1^tm1Mru
• Genetic Background: involves: 129S4/SvJae * BALB/cJ

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

mortality/aging

premature death ( J:51060 )

• between 2 and 4 months, 10% of mice die unlike wild-type mice

hematopoietic system

abnormal definitive hematopoiesis ( J:51060 )

• sites of extramedullary hematopoiesis exhibit hyperplasia rather than neoplasia

• mice develop a diathetic myeloproliferative disorder

• the number of mice exhibiting abnormal hematopoiesis increases with age

abnormal common myeloid progenitor cell morphology ( J:51060 )

• the number of colony forming units of granulocyte-macrophages that form from femur marrow is increased 2.7- to 12-fold compared to in wild-type samples

extramedullary hematopoiesis ( J:51060 )

• extramedullary hematopoiesis is present in the spleen and liver with some mice exhibiting extramedullary hematopoiesis in the thymus, pancreas, kidneys, and skeletal muscles

increased bone marrow cell number ( J:51060 )

• with a strong shift to myeloid lineages

abnormal spleen red pulp morphology ( J:51060 )

• myeloid extramedullary hematopoiesis is present in the red pulp

growth/size/body

decreased body size ( J:51060 )

• all mice are runted

• Background Sensitivity: runting is more severe on a background involving 129S4/SvJae and BALB/cJ than on one involving 129S4/SvJae, BALB/cJ, and C57BL/6J

decreased body weight ( J:51060 )

• by 3 weeks of age mice weight half as much as wild-type mice

• by 12 weeks, mice weigh 80% of wild-type

• however, by 15 months mice have a normal weight

postnatal growth retardation ( J:51060 )

• mice exhibit postnatal growth retardation

• however, mice exhibit normal postnatal development

cellular

increased cell proliferation ( J:51060 )

• proliferation of adult myoblast in culture is increased compared to that of wild-type myoblasts with a shift from G1 to S phase and an 8-fold reduction in spontaneous differentiation

increased fibroblast proliferation ( J:51060 )

• mouse embryonic fibroblasts from E13.5 embryos exhibit increased proliferation doubling every 35 hours compared with wild-type cells that double every 60 hours

immune system

abnormal spleen red pulp morphology ( J:51060 )

• myeloid extramedullary hematopoiesis is present in the red pulp

abnormal inflammatory response ( J:51060 )

• at 10 months, 70% of mice exhibit evidence of acute or chronic inflammation unlike wild-type mice

muscle

abnormal muscle physiology ( J:51060 )

• proliferation of adult myoblast is increased compared to that of wild-type myoblasts with a shift from G1 to S phase and an 8-fold reduction in spontaneous differentiation

integument

spontaneous skin ulceration ( J:51060 )

• skin ulcers and abscesses