Phenotypes associated with this allele

• Allele Symbol: Dp(16Lipi-Zbtb21)1Yey
• Allele Name: duplication, Chr 16, Y Eugene Yu 1
• Allele ID: MGI:3714529
• Summary: 15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dp(16Lipi-Zbtb21)1Yey/Dp(16Lipi-Zbtb21)1Yey	involves: 129/Sv * 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:5690055
cx2	Del(16Dyrk1a-Kcnj6)14Yey/Dp(16Lipi-Zbtb21)1Yey	B6.129S7-Del(16Dyrk1a-Kcnj6)14Yey/Dp(16Lipi-Zbtb21)1Yey	MGI:5690044
cx3	Del(16Kcnj15-Mx2)13Yey/Dp(16Lipi-Zbtb21)1Yey	B6.129S7-Del(16Kcnj15-Mx2)13Yey/Dp(16Lipi-Zbtb21)1Yey	MGI:5690037
cx4	Del(16Setd4-Kcnj6)12Yey/Dp(16Lipi-Zbtb21)1Yey	B6.129S7-Del(16Setd4-Kcnj6)12Yey/Dp(16Lipi-Zbtb21)1Yey	MGI:5690031
cx5	Dp(10Prmt2-Pdxk)2Yey/0 Dp(16Lipi-Zbtb21)1Yey/0	B6.129S7-Dp(10Prmt2-Pdxk)2Yey Dp(16Lipi-Zbtb21)1Yey	MGI:4461402
cx6	Dp(10Prmt2-Pdxk)2Yey/0 Dp(16Lipi-Zbtb21)1Yey/0 Dp(17Abcg1-Rrp1b)3Yey/0	B6.129S7-Dp(10Prmt2-Pdxk)2Yey Dp(16Lipi-Zbtb21)1Yey Dp(17Abcg1-Rrp1b)3Yey	MGI:4461401
cx7	Dp(16Lipi-Zbtb21)1Yey/0 Dp(17Abcg1-Rrp1b)3Yey/0	B6.129S7-Dp(16Lipi-Zbtb21)1Yey Dp(17Abcg1-Rrp1b)3Yey	MGI:4461403
cx8	Dp(16Lipi-Zbtb21)1Yey/Zbtb21^em1Jhan	B6.Cg-Dp(16Lipi-Zbtb21)1Yey Zbtb21^em1Jhan	MGI:7705525
cx9	Del(16Cbr1-Fam3b)1Rhr/Dp(16Lipi-Zbtb21)1Yey	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C3H/HeJ * C3H/HeSnJ * C57BL/6 * C57BL/LiA	MGI:5690021
cx10	Dp(16Lipi-Zbtb21)1Yey/Del(16Tiam1-Kcnj6)7Yey	involves: 129S7/SvEvBrd	MGI:5305774
cx11	Dp(16Lipi-Zbtb21)1Yey/Del(16Ifnar1-Kcnj6)11Yey	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5562375
cx12	Dp(16Lipi-Zbtb21)1Yey/0 Dyrk1a^Gt(XQ0369)Wtsi/Dyrk1a^+	involves: 129/Sv * 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:5690053
ot13	Dp(16Lipi-Zbtb21)1Yey/0	B6.129S7-Dp(16Lipi-Zbtb21)1Yey	MGI:5690023
ot14	Dp(16Lipi-Zbtb21)1Yey/0	B6.129S7-Dp(16Lipi-Zbtb21)1Yey/J	MGI:7378712
ot15	Dp(16Lipi-Zbtb21)1Yey/0	involves: 129S7/SvEvBrd	MGI:3714532

Genotype
MGI:5690055

hm1

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/Dp(16Lipi-Zbtb21)1Yey
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

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

mortality/aging

embryonic lethality, complete penetrance ( J:224899 )

• no viable pups are produced from heterozygote x heterozygote matings

Genotype
MGI:5690044

cx2

• Allelic Composition: Del(16Dyrk1a-Kcnj6)14Yey/Dp(16Lipi-Zbtb21)1Yey
• Genetic Background: B6.129S7-Del(16Dyrk1a-Kcnj6)14Yey/Dp(16Lipi-Zbtb21)1Yey

behavior/neurological

impaired contextual conditioning behavior ( J:224899 )

• mice exhibit decreased freezing behavior in contextual fear-conditioning test as compared to wild type

decreased exploration in new environment ( J:224899 )

• impaired performance in T maze spontaneous alteration test as compared to wild type

nervous system

reduced long-term potentiation ( J:224899 )

• magnitude of hippocampal LTP following theta burst stimulation is lower than controls

Genotype
MGI:5690037

cx3

• Allelic Composition: Del(16Kcnj15-Mx2)13Yey/Dp(16Lipi-Zbtb21)1Yey
• Genetic Background: B6.129S7-Del(16Kcnj15-Mx2)13Yey/Dp(16Lipi-Zbtb21)1Yey

behavior/neurological

impaired contextual conditioning behavior ( J:224899 )

• mice exhibit decreased freezing behavior in contextual fear-conditioning test as compared to wild type

decreased exploration in new environment ( J:224899 )

• impaired performance in T maze spontaneous alteration test as compared to controls

nervous system

reduced long-term potentiation ( J:224899 )

• magnitude of hippocampal LTP following theta burst stimulation is lower than controls

Genotype
MGI:5690031

cx4

• Allelic Composition: Del(16Setd4-Kcnj6)12Yey/Dp(16Lipi-Zbtb21)1Yey
• Genetic Background: B6.129S7-Del(16Setd4-Kcnj6)12Yey/Dp(16Lipi-Zbtb21)1Yey

behavior/neurological

impaired contextual conditioning behavior ( J:224899 )

• mice exhibit decreased freezing behavior in contextual fear-conditioning test as compared to wild type

decreased exploration in new environment ( J:224899 )

• impaired performance in T maze spontaneous alteration test as compared to controls

nervous system

reduced long-term potentiation ( J:224899 )

• magnitude of hippocampal LTP following theta burst stimulation is lower than controls

Genotype
MGI:4461402

cx5

• Allelic Composition: Dp(10Prmt2-Pdxk)2Yey/0; Dp(16Lipi-Zbtb21)1Yey/0
• Genetic Background: B6.129S7-Dp(10Prmt2-Pdxk)2Yey Dp(16Lipi-Zbtb21)1Yey

mortality/aging

neonatal lethality ( J:161325 )

• rate of neonatal lethality is similar to mice hemizygous for Dp(16Lipi-Zfp295)1Yey alone

Genotype
MGI:4461401

cx6

• Allelic Composition: Dp(10Prmt2-Pdxk)2Yey/0; Dp(16Lipi-Zbtb21)1Yey/0; Dp(17Abcg1-Rrp1b)3Yey/0
• Genetic Background: B6.129S7-Dp(10Prmt2-Pdxk)2Yey Dp(16Lipi-Zbtb21)1Yey Dp(17Abcg1-Rrp1b)3Yey

mortality/aging

decreased survivor rate ( J:161325 )

• mice with hydrocephaly die around 6 to 8 weeks of age

premature death ( J:161325 )

• mice with hydrocephaly die around 6 to 8 weeks of age

neonatal lethality, incomplete penetrance ( J:161325 )

• about 26% die soon after birth

behavior/neurological

impaired contextual conditioning behavior ( J:161325 )

• freeze significantly less when returned to the test chamber 24 h or 72 h after initial training and foot shock

abnormal spatial learning ( J:161325 )

• display a longer latency and a longer path length to reach the hidden platform in a Morris water maze

abnormal spatial reference memory ( J:161325 )

• in a Morris water maze probe test mice spend less time in the target quadrant

impaired swimming ( J:161325 )

• decrease in swimming speed

decreased grip strength ( J:161325 )

• in all limbs

nervous system

obstructive hydrocephaly ( J:161325 )

• seen in about 6.5% of mice, associated with aqueductal stenosis

cerebral aqueductal stenosis ( J:161325 )

dilated lateral ventricle ( J:161325 )

• in mice with hydrocephaly

reduced long-term potentiation ( J:161325 )

• in the hippocampus

cardiovascular system

abnormal heart morphology ( J:161325 )

• display heart defects at a similar frequency to mice hemizygous for Dp(16Lipi-Zfp295)1Yey alone

reproductive system

reproductive system phenotype ( J:161325 )

N • unlike mice carrying Ts(17<16>)65Dn , no reproductive impairment is seen in mice even when put on an inbred background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:161325

Genotype
MGI:4461403

cx7

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/0; Dp(17Abcg1-Rrp1b)3Yey/0
• Genetic Background: B6.129S7-Dp(16Lipi-Zbtb21)1Yey Dp(17Abcg1-Rrp1b)3Yey

mortality/aging

neonatal lethality ( J:161325 )

• rate of neonatal lethality is similar to mice hemizygous for Dp(16Lipi-Zfp295)1Yey alone

Genotype
MGI:7705525

cx8

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/Zbtb21^em1Jhan
• Genetic Background: B6.Cg-Dp(16Lipi-Zbtb21)1Yey Zbtb21^em1Jhan

nervous system

nervous system phenotype ( J:351206 )

♂N • the synaptic deficits seen in Dp(16Lipi-Zbtb21)1Yey/0 mice are largely restored, with corrected LTP, basal synaptic transmission, frequency of spontaneous excitatory postsynaptic current (sEPSCs), and dendritic spine density in the hippocampus and mice show no differences in cortical thickness or the area of the hippocampus

abnormal inhibitory postsynaptic currents ( J:351206 )

♂ • mice exhibit abnormal frequency of spontaneous inhibitory postsynaptic current (sIPSCs) in the hippocampal CA1 pyramidal neurons

behavior/neurological

behavior/neurological phenotype ( J:351206 )

♂N • cognitive deficits seen in Dp(16Lipi-Zbtb21)1Yey/0 mice are largely restored, with mice showing normal learning and memory in the Morris water maze

Genotype
MGI:5690021

cx9

• Allelic Composition: Del(16Cbr1-Fam3b)1Rhr/Dp(16Lipi-Zbtb21)1Yey
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C3H/HeJ * C3H/HeSnJ * C57BL/6 * C57BL/LiA

behavior/neurological

impaired contextual conditioning behavior ( J:224899 )

• mice exhibit decreased freezing behavior in contextual fear-conditioning test as compared to wild type

Genotype
MGI:5305774

cx10

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/Del(16Tiam1-Kcnj6)7Yey
• Genetic Background: involves: 129S7/SvEvBrd

normal phenotype

no abnormal phenotype detected ( J:180201 )

• normal survival

• no heart defects

cardiovascular system

cardiovascular system phenotype ( J:180201 )

N • no heart defects

Genotype
MGI:5562375

cx11

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/Del(16Ifnar1-Kcnj6)11Yey
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

mortality/aging

mortality/aging ( J:208104 )

N • mice are produced unlike when Del(16Ifnar1-Kcnj6)11Yey chimeras are bred to wild-type mice

Genotype
MGI:5690053

cx12

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/0; Dyrk1a^{Gt(XQ0369)Wtsi}/Dyrk1a⁺
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

behavior/neurological

impaired contextual conditioning behavior ( J:224899 )

• mice exhibit decreased freezing behavior in contextual fear-conditioning test as compared to wild type

decreased exploration in new environment ( J:224899 )

• impaired performance in T maze spontaneous alteration test as compared to controls

Genotype
MGI:5690023

ot13

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/0
• Genetic Background: B6.129S7-Dp(16Lipi-Zbtb21)1Yey

behavior/neurological

impaired contextual conditioning behavior ( J:224899 )

• mice exhibit decreased freezing behavior in contextual fear-conditioning test as compared to wild type

decreased exploration in new environment ( J:224899 )

• impaired performance in T maze spontaneous alteration test as compared to wild type

mortality/aging

premature death ( J:241597 )

• mice that develop severe hydrocephalus die by 6 weeks of age

reproductive system

transmission ratio distortion ( J:224899 )

• duplication is transmitted at a ratio that is lower than expected

nervous system

hydrocephaly ( J:241597 )

• 35.4% of mice develop severe hydrocephalus and die by 6 weeks of age

• however, stenosis of the aqueduct of Sylvius is not seen

reduced long-term potentiation ( J:224899 )

• magnitude of hippocampal LTP following theta burst stimulation is lower than controls

Genotype
MGI:7378712

ot14

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/0
• Genetic Background: B6.129S7-Dp(16Lipi-Zbtb21)1Yey/J

behavior/neurological

impaired contextual conditioning behavior ( J:351206 )

♂ • mice show reduced freezing time in the contextual fear conditioning tests

impaired cued conditioning behavior ( J:351206 )

♂ • mice show reduced freezing time in the cued fear conditioning test

impaired spatial learning ( J:351206 )

♂ • mice show longer latency to find the target during the Morris water maze training on day 4

abnormal spatial reference memory ( J:351206 )

♂ • in the Morris water maze probe test, mice spend less time in the target quadrant

nervous system

decreased dendritic spine density ( J:351206 )

♂ • mice show a reduction in spine density in the hippocampus

abnormal postsynaptic density morphology ( J:351206 )

♂ • mice show a reduction in post synaptic density in hippocampal CA1

abnormal CNS synaptic transmission ( J:351206 )

♂ • mice show reduced basal synaptic transmission in hippocampal CA1 region

decreased excitatory postsynaptic current frequency ( J:351206 )

♂ • mice show reduced frequency of spontaneous excitatory postsynaptic current (sEPSCs) in CA1 pyramidal neurons

abnormal excitatory postsynaptic potential ( J:351206 )

♂ • mice exhibit reduced fEPSP amplitude in hippocampal CA1 region

abnormal inhibitory postsynaptic currents ( J:351206 )

♂ • mice show increased frequency of spontaneous inhibitory postsynaptic current (sIPSCs) in CA1 pyramidal neurons

reduced long-term potentiation ( J:351206 )

♂ • mice show compromised LTP, with reduced fEPSP amplitude in hippocampal CA1 region

Genotype
MGI:3714532

ot15

• Allelic Composition: Dp(16Lipi-Zbtb21)1Yey/0
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

postnatal lethality ( J:121790 )

• only 38% of mice are alive at weaning

cardiovascular system

aorta coarctation ( J:121790 )

• seen in 1 of 30 embryos at E18.5

abnormal heart morphology ( J:121790 )

• at E18.5, about 37% of mice have heart defects including cleft of the mitral valve, atrial septal defect, perimembranous ventricular septum defect, conal ventricular septum defect, overriding of the aorta, narrowed outflow tract of the right ventricle, tetralogy of Fallot, double outlet right ventricle and coarcation of the aorta

double outlet right ventricle ( J:121790 )

• seen in one of 30 embryos at E18.5

overriding aortic valve ( J:121790 )

• seen in 2 of 30 embryos at E18.5

abnormal mitral valve morphology ( J:121790 )

• clefting seen in 3 of 30 embryos at E18.5

atrial septal defect ( J:121790 )

• seen in 4 of 30 embryos at E18.5

perimembraneous ventricular septal defect ( J:121790 )

• seen in 5 of 30 embryos at E18.5

subarterial ventricular septal defect ( J:121790 )

• seen in 2 of 30 embryos at E18.5

heart right ventricle outflow tract stenosis ( J:121790 )

• seen in 2 of 30 embryos at E18.5

digestive/alimentary system

abnormal intestine morphology ( J:121790 )

• at E18.5, 33% of mice have malrotation of the intestine

endocrine/exocrine glands

annular pancreas ( J:121790 )

• at E18.5, in about 26% of mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
annular pancreas		DOID:0060850	OMIM:167750	J:121790
tetralogy of Fallot		DOID:6419	OMIM:187500	J:121790