Phenotypes associated with this allele

• Allele Symbol: Smad7^{Gt(YHC053)Byg}
• Allele Name: gene trap YHC053, BayGenomics
• Allele ID: MGI:3876176
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad7^Gt(YHC053)Byg/Smad7^Gt(YHC053)Byg	involves: 129P2/OlaHsd * C57BL/6J	MGI:5583876
cx2	Smad7^Gt(YHC053)Byg/Smad7^+ Tbx1^tm1Bld/Tbx1^+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J	MGI:5583877
cx3	Smad7^Gt(YHC053)Byg/Smad7^+ Tbx1^tm6(cre)Bld/Tbx1^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:5583882

Genotype
MGI:5583876

hm1

• Allelic Composition: Smad7^{Gt(YHC053)Byg}/Smad7^{Gt(YHC053)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:212881 )

• 15% of E11.5 embryos and 29% by E15.5 exhibit fourth-related arch artery defects

ventricular septal defect ( J:212881 )

• 17% of embryos exhibit a ventricular septum defect, of which one has an overriding aorta

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:212881 )

• 15% of E11.5 embryos and 29% by E15.5 exhibit fourth-related arch artery defects

cleft palate ( J:212881 )

• 12.5% of embryos exhibit a cleft palate

digestive/alimentary system

cleft palate ( J:212881 )

• 12.5% of embryos exhibit a cleft palate

embryo

abnormal fourth pharyngeal arch artery morphology ( J:212881 )

• 15% of E11.5 embryos and 29% by E15.5 exhibit fourth-related arch artery defects

endocrine/exocrine glands

abnormal thymus morphology ( J:212881 )

• 92% of embryos exhibit a thymus defect, ranging from mildly hypoplastic, hypoplastic, aplastic, or single lobe phenotypes

thymus hypoplasia ( J:212881 )

growth/size/body

cleft palate ( J:212881 )

• 12.5% of embryos exhibit a cleft palate

hematopoietic system

abnormal thymus morphology ( J:212881 )

• 92% of embryos exhibit a thymus defect, ranging from mildly hypoplastic, hypoplastic, aplastic, or single lobe phenotypes

thymus hypoplasia ( J:212881 )

immune system

abnormal thymus morphology ( J:212881 )

• 92% of embryos exhibit a thymus defect, ranging from mildly hypoplastic, hypoplastic, aplastic, or single lobe phenotypes

thymus hypoplasia ( J:212881 )

Genotype
MGI:5583877

cx2

• Allelic Composition: Smad7^{Gt(YHC053)Byg}/Smad7⁺; Tbx1^tm1Bld/Tbx1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

cardiovascular system

abnormal artery development ( J:212881 )

• increase in numbers of apoptotic cells surrounding both sixth arch arteries at E11.5

abnormal pharyngeal arch artery morphology ( J:212881 )

• 63% of E11.5 embryos exhibit arch artery defects, however unlike single Tbx1 heterozygotes, double mutants do not recover from these defects at E15.5 and 68% show arch artery defects at this time

• hypoplastic vessels have a smaller cross-sectional area than single Tbx1 heterozygotes, and some show irregular lumen shapes

abnormal fourth pharyngeal arch artery morphology ( J:212881 )

• 38% of embryos exhibit aplastic fourth arch artery defects at E11.5

• abnormal extracellular matrix deposition/organization of the fourth arch arteries

vascular smooth muscle hypoplasia ( J:212881 )

• the number of SM22-positive cells (differentiated vascular smooth muscle cells) surrounding the 4th arch arteries are reduced compared to single Tbx1 heterozygotes at E10.5

• at E11.5, the vascular smooth muscle cell component is reduced in depth/thickness in the hypoplastic vessels, however discontinuities of vascular smooth muscle cell coverage are no longer observed

increased vascular smooth muscle cell proliferation ( J:212881 )

• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5

craniofacial

abnormal pharyngeal arch artery morphology ( J:212881 )

• 63% of E11.5 embryos exhibit arch artery defects, however unlike single Tbx1 heterozygotes, double mutants do not recover from these defects at E15.5 and 68% show arch artery defects at this time

• hypoplastic vessels have a smaller cross-sectional area than single Tbx1 heterozygotes, and some show irregular lumen shapes

abnormal fourth pharyngeal arch artery morphology ( J:212881 )

• 38% of embryos exhibit aplastic fourth arch artery defects at E11.5

• abnormal extracellular matrix deposition/organization of the fourth arch arteries

embryo

abnormal pharyngeal arch artery morphology ( J:212881 )

• 63% of E11.5 embryos exhibit arch artery defects, however unlike single Tbx1 heterozygotes, double mutants do not recover from these defects at E15.5 and 68% show arch artery defects at this time

• hypoplastic vessels have a smaller cross-sectional area than single Tbx1 heterozygotes, and some show irregular lumen shapes

abnormal fourth pharyngeal arch artery morphology ( J:212881 )

• 38% of embryos exhibit aplastic fourth arch artery defects at E11.5

• abnormal extracellular matrix deposition/organization of the fourth arch arteries

muscle

vascular smooth muscle hypoplasia ( J:212881 )

• the number of SM22-positive cells (differentiated vascular smooth muscle cells) surrounding the 4th arch arteries are reduced compared to single Tbx1 heterozygotes at E10.5

• at E11.5, the vascular smooth muscle cell component is reduced in depth/thickness in the hypoplastic vessels, however discontinuities of vascular smooth muscle cell coverage are no longer observed

increased vascular smooth muscle cell proliferation ( J:212881 )

• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5

cellular

increased vascular smooth muscle cell proliferation ( J:212881 )

• increase in proliferation of vascular smooth muscle cells in the pharyngeal system at E10.5

Genotype
MGI:5583882

cx3

• Allelic Composition: Smad7^{Gt(YHC053)Byg}/Smad7⁺; Tbx1^tm6(cre)Bld/Tbx1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

cardiovascular system

abnormal blood vessel morphology ( J:212881 )

• 52% of E15.5 fetuses show great vessel defects