Phenotypes Associated with This Genotype

Genotype
MGI:5429725

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0
• Genetic Background: involves: 129S6/SvEvTac

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

hematopoietic system

abnormal common myeloid progenitor cell morphology ( J:184564 )

• mutants have an altered proportion of myeloid progenitors, characterized by a shift from megakaryocyte-erythroid progenitors toward granulocyte-monocyte progenitors and an increased proportion of CFU-GM colonies

increased megakaryocyte cell number ( J:184564 )

abnormal megakaryocyte progenitor cell morphology ( J:184564 )

• bone marrow and spleen cells show an increased ability to form CFU-megakaryocyte colonies in vitro, but not erythroid BFU-Es

decreased erythrocyte cell number ( J:184564 )

• mutants have reduced red blood cell counts

thrombocytosis ( J:184564 )

• mutants develop a progressive myeloproliferative disorder associated with thrombocytosis

increased hematopoietic stem cell number ( J:184564 )

• E13.5 embryos show an increase of reconstituting fetal hematopoietic stem cells

nervous system

nervous system phenotype ( J:294908 )

N • long-term potentiation induced by tetanic stimulation (100 Hz, 1 s) in the CA1 region of hippocampal slices is mostly intact and depolarization during high-frequency stimulation (depolarization envelope) 950 ms after the first pulse of tetanic stimulation is normal

N • GABA(B) receptor-mediated synaptic inhibition is normal, with the ratio of GABA(B)receptor-mediated IPSCs to AMPA receptor-mediated EPSCs (I/E ratio) similar to wild-type mice

neoplasm

neoplasm ( J:184564 )

N • mutants do not develop leukemia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:184564