Phenotypes associated with this allele

• Allele Symbol: Ttn^tm1Brge
• Allele Name: targeted mutation 1, Brenda Gerull
• Allele ID: MGI:4359790
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttn^tm1Brge/Ttn^tm1Brge	B6.Cg-Ttn^tm1Brge	MGI:4359813
ht2	Ttn^tm1Brge/Ttn^+	B6.Cg-Ttn^tm1Brge	MGI:4359814

Genotype
MGI:4359813

hm1

• Allelic Composition: Ttn^tm1Brge/Ttn^tm1Brge
• Genetic Background: B6.Cg-Ttn^tm1Brge

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

mortality/aging

embryonic lethality, complete penetrance ( J:152736 )

• mice die between E8.5 and E10.5

cardiovascular system

abnormal myocardium layer morphology ( J:152736 )

• at E9.0, the myocardium lacks striations unlike in wild-type mice

abnormal heart development ( J:152736 )

• at E8.5, the common ventricles are slightly enlarged with thinner ventricular walls, loosely packed endocardial cells, and pericardial edema compared to in wild-type mice

• at E9.0, the heart region appears enlarged compared to in wild-type mice

• at E9.0, the ventricles and atria are smaller than in wild-type mice without proper layer structure compared to in wild-type mice

pericardial edema ( J:152736 )

• at E9.0

absent heartbeat ( J:152736 )

• at E8.75

embryo

embryonic growth retardation ( J:152736 )

• at E9.5 mice are poorly developed

• however, mice are normal at E8.5

decreased embryo size ( J:152736 )

• at E9.5 but not at E8.5

homeostasis/metabolism

pericardial edema ( J:152736 )

• at E9.0

growth/size/body

embryonic growth retardation ( J:152736 )

• at E9.5 mice are poorly developed

• however, mice are normal at E8.5

decreased embryo size ( J:152736 )

• at E9.5 but not at E8.5

muscle

abnormal myocardium layer morphology ( J:152736 )

• at E9.0, the myocardium lacks striations unlike in wild-type mice

Genotype
MGI:4359814

ht2

• Allelic Composition: Ttn^tm1Brge/Ttn⁺
• Genetic Background: B6.Cg-Ttn^tm1Brge

cardiovascular system

cardiovascular system phenotype ( J:152736 )

N • under normal condition, mice exhibit normal cardiac function and mechanical properties

abnormal heart left ventricle morphology ( J:152736 )

• after 2 weeks of treatment with angiotensin II, mice exhibit increased left ventricular end-diastolic diameter (LVEDD) compared with similarly treated wild-type mice

• however, a normal decrease in LVEDD a week after angiotensin II treatment is observed

dilated heart left ventricle ( J:152736 )

• mice treated with angiotensin II or isoproterenol exhibit increased left ventricular dilation compared with similarly treated wild-type mice

cardiac interstitial fibrosis ( J:152736 )

• following treatment with angiotensin II or isoproterenol

dilated cardiomyopathy ( J:152736 )

• following treatment with angiotensin II or isoproterenol

decreased cardiac muscle contractility ( J:152736 )

• after 1 and 2 weeks of treatment with angiotensin II, mice exhibit decreased fractional shortening compared with similarly treated wild-type mice

• after treatment with isoproterenol, mice exhibit reduced ejection fraction and fractional shortening compared with similarly treated wild-type mice

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:152736 )

• mice treated with angiotensin II or isoproterenol exhibit left ventricular dilation, decreased fractional shortening, increased left ventricular end-diastolic diameter, and increased cardiac interstitial fibrosis compared with similarly treated wild-type mice

muscle

dilated cardiomyopathy ( J:152736 )

• following treatment with angiotensin II or isoproterenol

decreased cardiac muscle contractility ( J:152736 )

• after 1 and 2 weeks of treatment with angiotensin II, mice exhibit decreased fractional shortening compared with similarly treated wild-type mice

• after treatment with isoproterenol, mice exhibit reduced ejection fraction and fractional shortening compared with similarly treated wild-type mice

cellular

cardiac interstitial fibrosis ( J:152736 )

• following treatment with angiotensin II or isoproterenol

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1G		DOID:0110430	OMIM:604145	J:152736