Phenotypes associated with this allele

• Allele Symbol: Nae1^{tm1c(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:6159278
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nae1^tm1c(EUCOMM)Wtsi/Nae1^tm1c(EUCOMM)Wtsi Tg(Camk2a-cre/ERT2)2Gsc/0 Tg(Thy1-EGFP)MJrs/0	involves: C57BL/6J * C57BL/6N * CBA * FVB/N * SJL	MGI:6259522
cn2	Nae1^tm1c(EUCOMM)Wtsi/Nae1^tm1c(EUCOMM)Wtsi Tg(Myh6-cre)2182Mds/0	involves: C57BL/6J * C57BL/6N * FVB/N * SJL	MGI:6159290

Genotype
MGI:6259522

cn1

• Allelic Composition: Nae1^{tm1c(EUCOMM)Wtsi}/Nae1^{tm1c(EUCOMM)Wtsi}; Tg(Camk2a-cre/ERT2)2Gsc/0; Tg(Thy1-EGFP)MJrs/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA * FVB/N * SJL

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

behavior/neurological

behavior/neurological phenotype ( J:262411 )

N • mice exhibit normal locomotion, sociability, fear conditioning and anxiety related behaviors

impaired long-term object recognition memory ( J:262411 )

• impaired in tamoxifen-treated mice

impaired short-term object recognition memory ( J:262411 )

• impaired in tamoxifen-treated mice

abnormal spatial working memory ( J:262411 )

• tamoxifen-treated mice exhibit impaired performance in a water-cross maze and Y-maze

nervous system

abnormal dendritic spine morphology ( J:262411 )

• reduced size in the cortical and hippocampal pyramidal neurons of tamoxifen-treated mice

• however, general neuron morphology is normal

decreased dendritic spine density ( J:262411 )

• in the cortical and hippocampal pyramidal neurons of tamoxifen-treated mice

abnormal CNS synaptic transmission ( J:262411 )

• reduced in tamoxifen-treated mice

• however, excitability is normal

Genotype
MGI:6159290

cn2

• Allelic Composition: Nae1^{tm1c(EUCOMM)Wtsi}/Nae1^{tm1c(EUCOMM)Wtsi}; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * FVB/N * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:261328 )

• expected or near expected numbers are found at E18.5 and P1 but no pups survive past P7 with most dying around 48-72 h after birth

cardiovascular system

abnormal myocardium layer morphology ( J:261328 )

• marked increase in the left ventricular noncompaction to compaction ratio at P1

increased myocardial fiber size ( J:261328 )

• increase in cardiomyocyte cross-sectional area

myocardial hypertrabeculation ( J:261328 )

• thicker trabecular layer in the left ventricle at E16.5

myocardial ventricular hypertrabeculation ( J:261328 )

• hypertrabeculation at P1

• at P1 prominent trabeculae that deeply penetrate into the compact layer are seen in both ventricles

myocardium hypoplasia ( J:261328 )

• at P1

thin ventricle myocardium compact layer ( J:261328 )

• at P1 thinner in both left and right ventricles

thin left ventricle myocardium compact layer ( J:261328 )

• thinner in the left ventricle at E16.5

abnormal heart development ( J:261328 )

• impaired ventricular wall maturation

enlarged heart ( J:261328 )

increased heart weight ( J:261328 )

• increase in heart to body weight ratio

cardiac hypertrophy ( J:261328 )

decreased heart left ventricle wall thickness ( J:261328 )

• left ventricular wall thinning at E18.5 and P1

dilated heart left ventricle ( J:261328 )

• marked increase in both left ventricle systolic and diastolic diameters and decrease in left ventricle systolic wall thickness at P1

• dilation is seen at E18.5

dilated heart right ventricle ( J:261328 )

• dilation is seen at E18.5

decreased heart ventricle muscle contractility ( J:261328 )

• ejection fraction is reduced to 50% of controls

decreased fetal cardiomyocyte proliferation ( J:261328 )

• at E14.5 and E16.5

decreased heart rate ( J:261328 )

homeostasis/metabolism

cyanosis ( J:261328 )

• develops by 48-72 h post birth

extremity edema ( J:261328 )

• peripheral edema develops by 48-72 h post birth

cellular

decreased fetal cardiomyocyte proliferation ( J:261328 )

• at E14.5 and E16.5

muscle

abnormal myocardium layer morphology ( J:261328 )

• marked increase in the left ventricular noncompaction to compaction ratio at P1

increased myocardial fiber size ( J:261328 )

• increase in cardiomyocyte cross-sectional area

myocardial hypertrabeculation ( J:261328 )

• thicker trabecular layer in the left ventricle at E16.5

myocardial ventricular hypertrabeculation ( J:261328 )

• hypertrabeculation at P1

• at P1 prominent trabeculae that deeply penetrate into the compact layer are seen in both ventricles

myocardium hypoplasia ( J:261328 )

• at P1

thin ventricle myocardium compact layer ( J:261328 )

• at P1 thinner in both left and right ventricles

thin left ventricle myocardium compact layer ( J:261328 )

• thinner in the left ventricle at E16.5

decreased heart ventricle muscle contractility ( J:261328 )

• ejection fraction is reduced to 50% of controls

decreased fetal cardiomyocyte proliferation ( J:261328 )

• at E14.5 and E16.5

growth/size/body

enlarged heart ( J:261328 )

increased heart weight ( J:261328 )

• increase in heart to body weight ratio

cardiac hypertrophy ( J:261328 )