Phenotypes associated with this allele

• Allele Symbol: Nfatc1^tm1(cre)Bz
• Allele Name: targeted mutation 1, Bin Zhou
• Allele ID: MGI:5699715
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nfatc1^tm1(cre)Bz/Nfatc1^+ Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:5699725

Genotype
MGI:5699725

cn1

• Allelic Composition: Nfatc1^tm1(cre)Bz/Nfatc1⁺; Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

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

mortality/aging

mortality/aging ( J:226941 )

N • most mice have a normal lifespan

cardiovascular system

enlarged heart ( J:226941 )

• hearts are frequently enlarged with thickened ventricles

abnormal heart ventricle morphology ( J:226941 )

• thickened ventricles

abnormal aortic valve morphology ( J:226941 )

• aortic valves have myxomatous characteristics, with extensive proteoglycan-rich material throughout the valve and intermittent and dispersed collagen deposits rather than the typical enrichment of collagen along the atrial side of the cusps

• aortic valves show presence of irregular chondrocyte-like cells with large nuclei and scattered small-nucleated cells, especially at the lateral edges of the cusps where they contact neighboring muscle

bicuspid aortic valve ( J:226941 )

• 9 of 26 mice have a bicuspid aortic valve

thick aortic valve cusps ( J:226941 )

• adults frequently (21 of 26) have thickened aortic valve cusps

thick pulmonary valve ( J:226941 )

• pulmonic valves are thickened

• however, the mitral valve is normal

cardiomyopathy ( J:226941 )

• mice exhibit aortic valve disease with thickened, misorganized and myxomatous cusps, bicuspid arrangement formation usually arising from left coronary cusp-non-coronary cusp fusion, without calcification

muscle

cardiomyopathy ( J:226941 )

• mice exhibit aortic valve disease with thickened, misorganized and myxomatous cusps, bicuspid arrangement formation usually arising from left coronary cusp-non-coronary cusp fusion, without calcification

growth/size/body

enlarged heart ( J:226941 )

• hearts are frequently enlarged with thickened ventricles