Phenotypes associated with this allele

• Allele Symbol: Jup⁺
• Allele Name: wild type
• Allele ID: MGI:2181279
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Jup^tm1.1(KOMP)Vlcg/Jup^+	C57BL/6N-Jup^tm1.1(KOMP)Vlcg/J	MGI:5757269
ht2	Jup^tm1Ruiz/Jup^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5660500
cx3	Jup^tm1Ruiz/Jup^+ Tg(Myh6-Jup*)1Ajm/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5660499

Genotype
MGI:5757269

ht1

• Allelic Composition: Jup^{tm1.1(KOMP)Vlcg}/Jup⁺
• Genetic Background: C57BL/6N-Jup^{tm1.1(KOMP)Vlcg}/J
• Cell Lines: 17908A-A10

Data Sources

IMPC Data for Jup

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

behavior/neurological

decreased coping response ( J:211773 )

♂

IMPC - JAX

impaired righting response ( J:211773 )

♂

IMPC - JAX

hematopoietic system

increased hemoglobin content ( J:211773 )

♂

IMPC - JAX

homeostasis/metabolism

decreased fasting circulating glucose level ( J:211773 )

♀

IMPC - JAX

decreased circulating phosphate level ( J:211773 )

♂

IMPC - JAX

Genotype
MGI:5660500

ht2

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

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

Genotype
MGI:5660499

cx3

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

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 heart left 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 heart left 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