Phenotypes associated with this allele

• Allele Symbol: Dp(16Cbr1-Fam3b)1Rhr
• Allele Name: duplication, Chr 16, R H Reeves 1
• Allele ID: MGI:3487283
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Dp(16Cbr1-Fam3b)1Rhr/0 Gata1^tm8.2Sho/Y	involves: 129S1/Sv * 129S6/SvEvTac	MGI:5429726
cx2	Dp(16Cbr1-Fam3b)1Rhr/0 Pcp4^tm1.1Kzy/Pcp4^+	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:6113678
ot3	Dp(16Cbr1-Fam3b)1Rhr/0	B6.129S6-Dp(16Cbr1-Fam3b)1Rhr	MGI:3718057
ot4	Dp(16Cbr1-Fam3b)1Rhr/0	B6.129S6-Dp(16Cbr1-Fam3b)1Rhr/Nimr	MGI:5703914
ot5	Dp(16Cbr1-Fam3b)1Rhr/0	involves: 129S6/SvEvTac	MGI:5429725
ot6	Dp(16Cbr1-Fam3b)1Rhr/0	involves: 129S6/SvEvTac * C3H/HeSnJ * C57BL/6Ei	MGI:3846455
ot7	Dp(16Cbr1-Fam3b)1Rhr/0	involves: 129S6/SvEvTac * C57BL/6	MGI:3718056

Genotype
MGI:5429726

cx1

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0; Gata1^tm8.2Sho/Y
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac

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

hematopoietic system

enlarged spleen ( J:184564 )

♂ • in 6 month old mutants

extramedullary hematopoiesis ( J:184564 )

♂ • extensive extramedullary hematopoiesis in 6 month old mutants

anemia ( J:184564 )

♂ • adult mutants are mildly anemic

abnormal bone marrow cell morphology/development ( J:184564 )

♂ • 6 month old mutants exhibit marrow fibrosis

♂ • increase in the number of CFU-GM colonies in the bone marrow in 6 month old mutants

abnormal bone marrow cell number ( J:184564 )

♂ • 6 month old mutants exhibit marrow fibrosis, with increased megakaryocytes present in clusters

increased megakaryocyte cell number ( J:184564 )

♂ • increase in number of megakaryocytes in the bone marrow in 6 month old mutants

abnormal megakaryocyte progenitor cell morphology ( J:184564 )

♂ • increase in number of CFU-Mk colonies in the bone marrow and/or spleen

thrombocytosis ( J:184564 )

♂ • adults develop a transient thrombocytosis

increased monocyte cell number ( J:184564 )

♂ • increase in number of monocytes in the bone marrow and/or the spleen of 6 month old mutants

immune system

enlarged spleen ( J:184564 )

♂ • in 6 month old mutants

increased monocyte cell number ( J:184564 )

♂ • increase in number of monocytes in the bone marrow and/or the spleen of 6 month old mutants

growth/size/body

enlarged spleen ( J:184564 )

♂ • in 6 month old mutants

Genotype
MGI:6113678

cx2

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0; Pcp4^tm1.1Kzy/Pcp4⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

cellular

abnormal brain ependyma motile cilium physiology ( J:241597 )

• mice show rescue of the decreased cilia beating frequency and cilia beating angle seen in Dp(16Cbr1-Fam32b)1Rhr/0 mice to a level slightly, yet significantly, higher than in wild-type mice

nervous system

abnormal brain ependyma motile cilium physiology ( J:241597 )

• mice show rescue of the decreased cilia beating frequency and cilia beating angle seen in Dp(16Cbr1-Fam32b)1Rhr/0 mice to a level slightly, yet significantly, higher than in wild-type mice

increased brain size ( J:241597 )

• rescue of whole brain enlargement is not seen

• lateral ventricles and the dorsal third ventricle are smaller than in Dp(16Cbr1-Fam32b)1Rhr mice and similar in size to wild-type mice

Genotype
MGI:3718057

ot3

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0
• Genetic Background: B6.129S6-Dp(16Cbr1-Fam3b)1Rhr

behavior/neurological

behavior/neurological phenotype ( J:121764 )

N • mice perform similar to control mice in a Morris water maze with a visible or hidden platform and have normal long term potentials

cellular

abnormal brain ependyma motile cilium physiology ( J:241597 )

• cilia beating frequency and cilia beating angle are decreased

nervous system

abnormal brain ependyma motile cilium physiology ( J:241597 )

• cilia beating frequency and cilia beating angle are decreased

abnormal brain morphology ( J:241597 )

• whole brain volume is larger

• however, neurogenesis in adult brain is not decreased

• the cerebral aqueduct is not affected, with normal aqueduct of Sylvius

• cortical thickness is enlarged, particularly in the medial part of the brain

dilated lateral ventricle ( J:241597 )

• lateral brain ventricle volumes are larger at 3 months of age, increased by 63.8%

• other (3rd and 4th) ventricles show trends of enlargement

enlarged hippocampus ( J:241597 )

• hippocampal area is enlarged, particularly in the medial part of the brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:241597

Genotype
MGI:5703914

ot4

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0
• Genetic Background: B6.129S6-Dp(16Cbr1-Fam3b)1Rhr/Nimr

cardiovascular system

cardiovascular system phenotype ( J:227899 )

N • mice do not exhibit an increase in congenital heart defects compared with wild-type mice

Genotype
MGI:5429725

ot5

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

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

Genotype
MGI:3846455

ot6

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0
• Genetic Background: involves: 129S6/SvEvTac * C3H/HeSnJ * C57BL/6Ei

nervous system

increased brain weight ( J:148478 )

• at 7.5 months

increased hippocampus volume ( J:148478 )

• the hippocampus volume is enlarged compared to in wild-type mice

thickened cerebral cortex ( J:148478 )

• the motor cortex thicker than in wild-type mice

abnormal dendrite morphology ( J:148478 )

• dendritic spine density in the fascia dentate is decreased 14% compared to in wild-type mice

• the area of spine head in the fascia dentata is increased compared to in wild-type mice

• however, the length of spine necks in the fascia dentate is normal

• the average width of dendrites in layers II to III apical oblique is decreased compared to in wild-type mice

• the area of spine head in layers II to III is increased compared to in wild-type mice

reduced long-term potentiation ( J:148478 )

• tetanization protocols fail to induce long term potentiation (LTP) unlike in wild-type mice

• however, treatment with picrotoxin restores the ability of tetanization to induce LTP

behavior/neurological

abnormal object recognition memory ( J:148478 )

• mice exhibit impaired object recognition compared with wild-type mice

abnormal spatial working memory ( J:148478 )

• mice exhibit inferior performance in a T-maze compared with wild-type mice

increased thigmotaxis ( J:148478 )

• mice spend more time and travel a longer distance in the periphery of an open field compared with wild-type mice

abnormal response to novel object ( J:148478 )

• mice exhibit a lack of interest towards a novel object compared with wild-type mice

decreased vertical activity ( J:148478 )

• during the light cycle, mice spend less time rearing than wild-type mice

• however, other locomotor activities are normal during the light cycle

growth/size/body

increased body weight ( J:148478 )

• at 3 and 3.5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:148478

Genotype
MGI:3718056

ot7

• Allelic Composition: Dp(16Cbr1-Fam3b)1Rhr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

nervous system

decreased brain size ( J:121764 )

• brain size is 85% of that in control mice

small cerebellum ( J:121764 )

• cerebellum size if 95% of that in control mice

growth/size/body

increased body size ( J:93223 )

increased body weight ( J:121764 )

skeleton

enlarged cranium ( J:93223 )

large mandible ( J:93223 )

• mandibles are overall enlarged

long femur ( J:93223 )

craniofacial

enlarged cranium ( J:93223 )

large mandible ( J:93223 )

• mandibles are overall enlarged

limbs/digits/tail

long femur ( J:93223 )