Phenotypes associated with this allele

• Allele Symbol: Smad5^tm1.1Huy
• Allele Name: targeted mutation 1.1, Danny Huylebroeck
• Allele ID: MGI:2679443
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad5^tm1.1Huy/Smad5^tm1.1Huy	involves: 129P2/OlaHsd	MGI:2679450
cn2	Smad5^tm1Huy/Smad5^tm1.1Huy Tg(Tie1-cre)9Ref/0	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:3710361
cn3	Smad5^tm1Huy/Smad5^tm1.1Huy Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:3710360
cn4	Smad5^tm1Huy/Smad5^tm1.1Huy Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:3710362

Genotype
MGI:2679450

hm1

• Allelic Composition: Smad5^tm1.1Huy/Smad5^tm1.1Huy
• Genetic Background: involves: 129P2/OlaHsd

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

cardiovascular system

dilated dorsal aorta ( J:86157 )

• dilated dorsal aorta observed at E8.5

abnormal vasculogenesis ( J:86157 )

• ectopic vasculogenesis

abnormal heart development ( J:86157 )

• the heart was often exteriorized and underdeveloped

digestive/alimentary system

abnormal foregut morphology ( J:86157 )

• delayed foregut invagination

embryo

failure of initiation of embryo turning ( J:86157 )

• turning was not initiated

incomplete rostral neuropore closure ( J:86157 )

• the cranial neural tube was observed to be open in many embryos

abnormal extraembryonic tissue morphology ( J:86157 )

• evident at E9.5

abnormal allantois morphology ( J:86157 )

• impaired elongation and enlarged base

abnormal amnion morphology ( J:86157 )

• hemorrhagic aggregates of cells were present in the amnion

abnormal visceral yolk sac morphology ( J:86157 )

• blistered and anemic appearance

pale yolk sac ( J:86157 )

hematopoietic system

abnormal definitive hematopoiesis ( J:86157 )

• ectopic hematopoiesis

nervous system

incomplete rostral neuropore closure ( J:86157 )

• the cranial neural tube was observed to be open in many embryos

Genotype
MGI:3710361

cn2

• Allelic Composition: Smad5^tm1Huy/Smad5^tm1.1Huy; Tg(Tie1-cre)9Ref/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

cardiovascular system

cardiovascular system phenotype ( J:121072 )

N • mutants exhibit normal blood vessel development, normal blood vessel morphology in adults, normal angiogenesis, and a similar vascular remodeling response as controls

Genotype
MGI:3710360

cn3

• Allelic Composition: Smad5^tm1Huy/Smad5^tm1.1Huy; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

cardiovascular system

dilated heart ( J:121072 )

• mild dilation of the heart

• no cardiomyopathy, cardiac hypertrophy, or differences in heart rate and have normal blood vessel development, blood vessel morphology in adults, angiogenesis and vascular remodeling response

decreased cardiac muscle contractility ( J:121072 )

♀ • at 9 months of age, females, but not males, show larger systolic and diastolic LV internal diameters and decreased fractional shortening, indicating decreased cardiac contractility

homeostasis/metabolism

impaired exercise endurance ( J:121072 )

♀ • females, but not males, perform worse in a treadmill experiment

muscle

decreased cardiac muscle contractility ( J:121072 )

♀ • at 9 months of age, females, but not males, show larger systolic and diastolic LV internal diameters and decreased fractional shortening, indicating decreased cardiac contractility

behavior/neurological

impaired exercise endurance ( J:121072 )

♀ • females, but not males, perform worse in a treadmill experiment

Genotype
MGI:3710362

cn4

• Allelic Composition: Smad5^tm1Huy/Smad5^tm1.1Huy; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

cardiovascular system

cardiovascular system phenotype ( J:121072 )

N • mutants exhibit normal blood vessel development and blood vessel morphology in adults