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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ece2tm1Ywa
targeted mutation 1, Masashi Yanagisawa
MGI:2181668
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ece2tm1Ywa/Ece2tm1Ywa involves: 129S6/SvEvTac * C57BL/6J MGI:3037320
cx2
Ece1tm1Reh/Ece1tm1Reh
Ece2tm1Ywa/Ece2tm1Ywa
involves: 129S6/SvEvTac * C57BL/6J MGI:3037339
cx3
Ece1tm1Reh/Ece1+
Ece2tm1Ywa/Ece2tm1Ywa
involves: 129S6/SvEvTac * C57BL/6J MGI:3037348


Genotype
MGI:3037320
hm1
Allelic
Composition
Ece2tm1Ywa/Ece2tm1Ywa
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ece2tm1Ywa mutation (3 available); any Ece2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• male and female homozygotes displayed no gross neurological or behavioral abnormalities, suggesting absence of CNS defects; most tissues, including brain, appeared histologically normal




Genotype
MGI:3037339
cx2
Allelic
Composition
Ece1tm1Reh/Ece1tm1Reh
Ece2tm1Ywa/Ece2tm1Ywa
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ece1tm1Reh mutation (2 available); any Ece1 mutation (137 available)
Ece2tm1Ywa mutation (3 available); any Ece2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cardiac defects in Ece1tm1Reh/Ece1tm1Reh and Ece1tm1Reh/Ece1tm1Reh Ece2tm1Ywa/Ece2tm1Ywa embryos

mortality/aging
• the number of alive double homozygous mutant embryos decreased after E12.5
• the ratio of double homozygous embryos that survived until birth tended to be less than that of single Ece1 homozygous mutant embryos, but this difference did not reach statistical significance

cardiovascular system
• double homozygous mutant embryos developed cardiac abnormalities that were broader and more severe than those of single Ece1 homozygous mutant embryos
• cardiac abnormalities included total or localized defects of the aorticopulmonary septum, which resulted in persistent truncus arteriosus or aorticopulmonary window
• in severe cases, the endocardial cushion was hypoplastic and did not form atrioventricular valves at all
• seen in more than half of the mutants
• double homozygous mutant embryos displayed defects in spiraling of the conotruncal ridges and aorticopulmonary septum; these resulted in a parallel position of the aortic and pulmonary outflow tracts without crossing over each other, with the two valves observed side by side on the same transverse plane
• atrioventricular valves opened toward a ventricular septal defect but not to the left ventricle
• double homozygous mutant embryos frequently displayed abnormal atrioventricular valve formation, a phenotype never observed in single Ece1 homozygous mutant embryos

craniofacial
• near-term or E20.0 double homozygous mutant embryos had a hypoplastic mandible
• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae

embryo
N
• double E16.0-E20.0 homozygous mutant embryos displayed defects in multiple neural crest-derived tissues, which were identical to those observed in single Ece1 homozygous mutant embryos
• at E12.5, the endothelin-1/endothelin-2 levels in whole double homozygous mutant embryos did not differ significantly from those of single Ece1 homozygous mutant embryos

hearing/vestibular/ear
• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae

skeleton
• near-term or E20.0 double homozygous mutant embryos displayed a shrunken anterior neck
• near-term or E20.0 double homozygous mutant embryos had a hypoplastic mandible

growth/size/body
• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
double outlet right ventricle DOID:6406 OMIM:217095
J:62261




Genotype
MGI:3037348
cx3
Allelic
Composition
Ece1tm1Reh/Ece1+
Ece2tm1Ywa/Ece2tm1Ywa
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ece1tm1Reh mutation (2 available); any Ece1 mutation (137 available)
Ece2tm1Ywa mutation (3 available); any Ece2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice heterozygous for Ece1tm1Reh and homozygous for Ece2tm1Ywa were healthy and fertile, and appeared indistinguishable from Ece1tm1Reh heterozygous mutant mice





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory