Phenotypes associated with this allele

• Allele Symbol: Smad2^tm1Enl
• Allele Name: targeted mutation 1, En Li
• Allele ID: MGI:1857692
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad2^tm1Enl/Smad2^tm1Enl	involves: 129S4/SvJae	MGI:2182496
ht2	Smad2^tm1Enl/Smad2^+	involves: 129S4/SvJae	MGI:2182497
cx3	Smad2^tm1Enl/Smad2^+ Nodal^tm1Rob/Nodal^+	involves: 129S/SvEv * 129S4/SvJae	MGI:2182498

Genotype
MGI:2182496

hm1

• Allelic Composition: Smad2^tm1Enl/Smad2^tm1Enl
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

embryonic lethality, complete penetrance ( J:48467 )

• die between E7.5 and E10.5

embryo

abnormal developmental patterning ( J:48467 )

abnormal proximal-distal axis patterning ( J:48467 )

• loss of proximal-distal polarity

abnormal rostral-caudal axis patterning ( J:48467 )

• lack a discernible anterior-posterior axis at E7.5 and E8.5

embryonic growth retardation ( J:48467 )

• severely growth retarded at E7.5 - E8.5

decreased embryo size ( J:48467 )

• at E6.0 - E6.5

abnormal embryonic epiblast morphology ( J:48467 )

• disorganized at E7.5

absent mesoderm ( J:48467 )

• at E7.5

failure of primitive streak formation ( J:48467 )

abnormal embryonic-extraembryonic boundary morphology ( J:48467 )

• the boundary appears disrupted resulting in ectopic localization of both embryonic and extraembryonic tissues and loss of proximal-distal polarity

abnormal extraembryonic tissue morphology ( J:48467 )

abnormal proamniotic cavity morphology ( J:48467 )

• the proamniotic cavity forms but fails to extend into the visceral endoderm

abnormal extraembryonic endoderm formation ( J:48467 )

• disorganized at E7.5

abnormal visceral endoderm morphology ( J:48467 )

• at E6.0 - E6.5, the visceral endoderm is detached from the epiblast

growth/size/body

embryonic growth retardation ( J:48467 )

• severely growth retarded at E7.5 - E8.5

decreased embryo size ( J:48467 )

• at E6.0 - E6.5

Genotype
MGI:2182497

ht2

• Allelic Composition: Smad2^tm1Enl/Smad2⁺
• Genetic Background: involves: 129S4/SvJae

embryo

embryonic growth retardation ( J:48467 )

• at E7.5 and E8.5 affected embryos are severely growth retarded

abnormal embryonic tissue morphology ( J:48467 )

• at E7.5 in about 20% of embryos, the embryonic cylinder is distorted

• at E8.5 affected embryos are deformed and often outside the yolk sac; however, extraembryonic tissues appear normal

abnormal primitive streak elongation ( J:48467 )

• in affected embryos the primitive streak forms but fails to extend distally

absent allantois ( J:48467 )

• often not formed at E7.5

absent amnion ( J:48467 )

• often not formed at E7.5

growth/size/body

embryonic growth retardation ( J:48467 )

• at E7.5 and E8.5 affected embryos are severely growth retarded

craniofacial

abnormal craniofacial morphology ( J:48467 )

• about 10% of embryos that pass through gastrulation display craniofacial defects

abnormal mandible morphology ( J:48467 )

absent mandible ( J:48467 )

• absent in some heterozygotes

mandible hypoplasia ( J:48467 )

• hypoplastic in some heterozygotes

vision/eye

abnormal eye development ( J:48467 )

• about 10% of embryos that pass through gastrulation display craniofacial defects including absence of an eye

skeleton

abnormal mandible morphology ( J:48467 )

absent mandible ( J:48467 )

• absent in some heterozygotes

mandible hypoplasia ( J:48467 )

• hypoplastic in some heterozygotes

Genotype
MGI:2182498

cx3

• Allelic Composition: Smad2^tm1Enl/Smad2⁺; Nodal^tm1Rob/Nodal⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae

embryo

abnormal gastrulation ( J:48467 )

• at E9.5 11 of 20 embryos had gastrulation defects similar to those in Smad2 single heterozygotes

abnormal direction of embryo turning ( J:48467 )

• 3 of 20 turn in the opposite direction compared to wild-type mice

abnormal left-right axis patterning ( J:48467 )

• 32% (8 of 25) have defects in left-right patterning

rostral body truncation ( J:48467 )

• in the most severe cases the rostral head and eyes are truncated

abnormal lateral plate mesoderm morphology ( J:48467 )

• in affected embryos lateral plate mesoderm is restricted to the posterior region

cardiovascular system

abnormal heart looping ( J:48467 )

• 3 of 20 have abnormal heart looping

transposition of great arteries ( J:48467 )

• most common cardiac defect in embryos with left-right patterning abnormalities

growth/size/body

right pulmonary isomerism ( J:48467 )

• seen in 6 of 25 embryos, these mice also have transposition of the great arteries

craniofacial

abnormal craniofacial morphology ( J:48467 )

• at E15.5 - E17.5 severe craniofacial defects are seen in 14 of 25 mutants

vision/eye

cyclopia ( J:48467 )

• present at E15.5 - E17.5 in 9 of 25

respiratory system

right pulmonary isomerism ( J:48467 )

• seen in 6 of 25 embryos, these mice also have transposition of the great arteries