Phenotypes associated with this allele

• Allele Symbol: Ddah1^tm1Pval
• Allele Name: targeted mutation 1, Patrick Vallance
• Allele ID: MGI:3711768
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ddah1^tm1Pval/Ddah1^tm1Pval	involves: 129X1/SvJ	MGI:4415203
hm2	Ddah1^tm1Pval/Ddah1^tm1Pval	involves: 129X1/SvJ * C57BL/6	MGI:3712060
ht3	Ddah1^tm1Pval/Ddah1^+	involves: 129X1/SvJ * C57BL/6	MGI:3712061

Genotype
MGI:4415203

hm1

• Allelic Composition: Ddah1^tm1Pval/Ddah1^tm1Pval
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

embryonic lethality before implantation, incomplete penetrance ( J:155618 )

• fewer than expected mice are present at E2

Genotype
MGI:3712060

hm2

• Allelic Composition: Ddah1^tm1Pval/Ddah1^tm1Pval
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:121719 )

• no homozygous mice are produced from heterozygous matings, indicating lethality in utero

Genotype
MGI:3712061

ht3

• Allelic Composition: Ddah1^tm1Pval/Ddah1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

cardiovascular system

abnormal pulmonary artery morphology ( J:121719 )

• vessels of pulmonary tree show an increase in wall:lumen ratio; percentage smooth muscle medial wall thickness of pulmonary resistance vessels is higher relative to controls

abnormal cardiovascular system physiology ( J:121719 )

• right ventricular pressure is significantly elevated compared to wild-type

• pulmonary pressure is elevated

decreased cardiac output ( J:121719 )

• decreased compared to wild-type

decreased heart rate ( J:121719 )

• decreased compared to wild-type

increased mean systemic arterial blood pressure ( J:121719 )

• increased in heterozygotes

increased vasoconstriction ( J:121719 )

• pulmonary and systemic vessels show increased contraction in response to phenylephrine

abnormal vasodilation ( J:121719 )

• pulmonary and systemic vessels show reduced relaxation in response to acetycholine or a calcium ionophore, but display increased relaxation in response to sodium nitroprusside (a nitric oxide donor)

muscle

increased vasoconstriction ( J:121719 )

• pulmonary and systemic vessels show increased contraction in response to phenylephrine

abnormal vasodilation ( J:121719 )

• pulmonary and systemic vessels show reduced relaxation in response to acetycholine or a calcium ionophore, but display increased relaxation in response to sodium nitroprusside (a nitric oxide donor)

homeostasis/metabolism

abnormal circulating amino acid level ( J:121719 )

• both plasma and tissue levels of asymmetric dimethlyarginine (ADMA) are increased, while concentration of symmetric dimethylarginine (SDMA) are unaffected

abnormal nitric oxide homeostasis ( J:121719 )

• cultured primary pulmonary arterial endothelial cells produce more ADMA and less nitric oxide than cultured wild-type cells