Phenotypes Associated with This Genotype

Genotype
MGI:3625139

• Allelic Composition: Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.2Bhr; Isl1^tm1(cre)Sev/Isl1⁺
• Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

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

embryo

abnormal hindlimb bud morphology ( J:107396 )

• by E11.5 ectopic outgrowths were observed on the ventral surface of the hindlimb bud

small hindlimb buds ( J:107396 )

• at E10, hindlimb buds were smaller

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:107396 )

• mutants were recovered at Mendelian frequencies at E10.5 but began to be lost by E11.5 and no live mutants were recovered at E14.5

cardiovascular system

persistent truncus arteriosus ( J:107396 )

• abnormalities of outflow tract and right ventricle was evident by E8.5

• at E13.5 severe abnormalities of outflow tract formation with evident of persistent truncus arteriosus and underdeveloped valves

abnormal fetal cardiomyocyte apoptosis ( J:107396 )

• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum

decreased fetal cardiomyocyte proliferation ( J:107396 )

• proliferation of ventricular myocardium in the free wall and septum was decreased in mutants relative to controls

muscle

abnormal fetal cardiomyocyte apoptosis ( J:107396 )

• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum

decreased fetal cardiomyocyte proliferation ( J:107396 )

• proliferation of ventricular myocardium in the free wall and septum was decreased in mutants relative to controls

limbs/digits/tail

abnormal hindlimb bud morphology ( J:107396 )

• by E11.5 ectopic outgrowths were observed on the ventral surface of the hindlimb bud

small hindlimb buds ( J:107396 )

• at E10, hindlimb buds were smaller

abnormal hindlimb morphology ( J:107396 )

• by E13.5 hindlimb formation was severely abnormal

cellular

abnormal fetal cardiomyocyte apoptosis ( J:107396 )

• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum

decreased cell proliferation ( J:107396 )

• proliferation of developing hindlimb buds was severely decreased

decreased fetal cardiomyocyte proliferation ( J:107396 )

• proliferation of ventricular myocardium in the free wall and septum was decreased in mutants relative to controls