All Phenotypes Jup<tm1Ruiz> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Jup^tm1Ruiz
targeted mutation 1, Patricia Ruiz
MGI:1861958

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jup^tm1Ruiz/Jup^tm1Ruiz	involves: 129P2/OlaHsd	MGI:5305441
hm2	Jup^tm1Ruiz/Jup^tm1Ruiz	involves: 129P2/OlaHsd * C57BL/6	MGI:2181385
ht3	Jup^tm1Ruiz/Jup⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:5660500
cn4	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Jup^tm1Ruiz/Jup^tm1Ruiz Olig2^tm1(cre)Tmj/Olig2⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:5305443
cn5	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Jup^tm1Ruiz/Jup^tm1.1Tmj Olig2^tm1(cre)Tmj/Olig2⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:5305439
cx6	Jup^tm1Ruiz/Jup^tm1Ruiz Tg(Myh6-Jup*)1Ajm/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5660498
cx7	Jup^tm1Ruiz/Jup⁺ Tg(Myh6-Jup*)1Ajm/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5660499

Allelic Composition	Jup^tm1Ruiz/Jup^tm1Ruiz
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:178688 )

• mice die between E10.5 and E15.5 from heart defects

embryonic lethality during organogenesis, incomplete penetrance ( J:178688 )

• mice die between E10.5 and E15.5 from heart defects

cardiovascular system

abnormal heart development ( J:178688 )

• mice die between E10.5 and E15.5 from heart defects

Allelic Composition	Jup^tm1Ruiz/Jup^tm1Ruiz
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)

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

Blood supply, particularly of liver and placenta, is reduced in Jup^tm1Ruiz/Jup^tm1Ruiz mice at E12

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:64280 )

• death between E12 and E16, although a few survive to E16-E18; these are swollen and covered with edemas and have blood retention in kidney and liver

embryo

embryonic growth retardation ( J:64280 )

• evident beginning at E12

abnormal spongiotrophoblast layer morphology ( J:64280 )

• spongiotrophoblast of the placenta is poorly supplied with blood

decreased spongiotrophoblast size ( J:64280 )

• spongiotrophoblast of the placenta is reduced in size

growth/size/body

embryonic growth retardation ( J:64280 )

• evident beginning at E12

cardiovascular system

abnormal heart morphology ( J:64280 )

• heart rupture in the ventricles

abnormal intercalated disk morphology ( J:64280 )

• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions

absent cardiac desmosomes ( J:64280 )

• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis

abnormal blood circulation ( J:64280 )

• blood supply, particularly of liver and placenta, is reduced

hemopericardium ( J:64280 )

• pericardial cavities are frequently swollen and filled with blood

abnormal cardiac muscle contractility ( J:64280 )

• amplitude of heart contraction is strongly reduced

increased heart rate ( J:64280 )

muscle

abnormal intercalated disk morphology ( J:64280 )

• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions

absent cardiac desmosomes ( J:64280 )

• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis

abnormal cardiac muscle contractility ( J:64280 )

• amplitude of heart contraction is strongly reduced

liver/biliary system

abnormal liver morphology ( J:64280 )

• at P14, liver parenchyme shows intital signs of deterioration

homeostasis/metabolism

hemopericardium ( J:64280 )

• pericardial cavities are frequently swollen and filled with blood

integument

pallor ( J:64280 )

• pale due to decreased blood flow to liver and placenta

Allelic Composition	Jup^tm1Ruiz/Jup⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)

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

adipose tissue

abnormal fat cell differentiation ( J:192719 )

• mouse embryonic fibroblasts isolated from embryos show a 20-fold reduction in the number of ORO stained cells, indicating resistance to adipogenesis

• despite adipogenic induction, cardiac progenitor cells are resistant to adipogenesis

cardiovascular system

thin interventricular septum ( J:192719 )

abnormal heart echocardiography feature ( J:192719 )

• increase in left ventricular end diastolic diameter, however left ventricular fractional shortening is preserved

cellular

abnormal fat cell differentiation ( J:192719 )

• mouse embryonic fibroblasts isolated from embryos show a 20-fold reduction in the number of ORO stained cells, indicating resistance to adipogenesis

• despite adipogenic induction, cardiac progenitor cells are resistant to adipogenesis

Allelic Composition	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Jup^tm1Ruiz/Jup^tm1Ruiz Olig2^tm1(cre)Tmj/Olig2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1^tm2Kem mutation (1 available); any Ctnnb1 mutation (49 available)
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)
Olig2^tm1(cre)Tmj mutation (0 available); any Olig2 mutation (46 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:178688 )

• mice survive until E10.5 and E13.5

nervous system

nervous system phenotype ( J:178688 )

N	• mice exhibit normal lumbar motor column neuron specification, lateral migration, and segregation

abnormal neuronal migration ( J:178688 )

• some motor neurons fail to migrate away from the ventricular zone unlike in control mice

decreased motor neuron number ( J:178688 )

• in the spinal cord medial motor column

abnormal ventral interneuron 1 morphology ( J:178688 )

• mice exhibit a 2.5-fold increase in En1+ V1 interneurons and 3-fold increase in Chx10+ V2a interneurons compared to in control mice

abnormal ventral interneuron 2 morphology ( J:178688 )

• mice exhibit a 3-fold increase in Chx10+ V2a interneurons compared to in control mice

abnormal spinal cord motor column morphology ( J:178688 )

• at E11.5, mice exhibit intermixing of medial and lateral lumbar motor column neurons unlike in control mice

• at E13.5, preganglionic column neurons are scattered in ectopic ventral position unlike in control mice

• mice exhibit disorganization of intrasegmental neuron pools compared with control mice

• however, organization of rostro-caudal neurons are normal

abnormal spinal cord lateral motor column morphology ( J:178688 )

• Foxp1+ neurons are less densely packed than in control mice

• however, overall neuron packing is normal

abnormal spinal cord medial motor column morphology ( J:178688 )

• reduced number of neurons

cellular

abnormal neuronal migration ( J:178688 )

• some motor neurons fail to migrate away from the ventricular zone unlike in control mice

Allelic Composition	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Jup^tm1Ruiz/Jup^tm1.1Tmj Olig2^tm1(cre)Tmj/Olig2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1^tm2Kem mutation (1 available); any Ctnnb1 mutation (49 available)
Jup^tm1.1Tmj mutation (1 available); any Jup mutation (162 available)
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)
Olig2^tm1(cre)Tmj mutation (0 available); any Olig2 mutation (46 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:178688 )

• mice only survive until E14.5

nervous system

abnormal dendrite morphology ( J:178688 )

• at E14.5, motor neuron dendrite length and primary branch number are reduced 2- to 3-fold compared with control dendrites

Allelic Composition	Jup^tm1Ruiz/Jup^tm1Ruiz Tg(Myh6-Jup*)1Ajm/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)
Tg(Myh6-Jup*)1Ajm mutation (0 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:192719 )

• no viable pups are observed, indicating prenatal lethality

Allelic Composition	Jup^tm1Ruiz/Jup⁺ Tg(Myh6-Jup*)1Ajm/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jup^tm1Ruiz mutation (1 available); any Jup mutation (162 available)
Tg(Myh6-Jup*)1Ajm mutation (0 available)

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

cardiovascular system

abnormal cardiovascular system morphology ( J:192719 )

• mice exhibit similar cardiovascular phenotypes as single Tg(Myh6-Jup*)1Ajm transgenic mice

abnormal heart morphology ( J:192719 )

• increase in fibroadipocytes in the heart

thin interventricular septum ( J:192719 )

decreased ventricle muscle contractility ( J:192719 )

• reduced left ventricular fractional shortening

abnormal heart echocardiography feature ( J:192719 )

• increase in left ventricular end diastolic diameter, left ventricular end systolic diameter, and left ventricular mass

adipose tissue

abnormal fat cell morphology ( J:192719 )

• increase in fibroadipocytes in the heart

muscle

decreased ventricle muscle contractility ( J:192719 )

• reduced left ventricular fractional shortening

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arrhythmogenic right ventricular dysplasia 12		DOID:0110083	OMIM:611528	J:192719

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