Phenotypes Associated with This Genotype

Genotype
MGI:2169509

• Allelic Composition: T/T
• Genetic Background: Not Specified

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:13018 )

• die around E11

embryo

caudal body truncation ( J:13018 )

• posterior region of the body is greatly reduced at E10

decreased embryo size ( J:11933 , J:13018 )

• structures posterior to the forelimb buds are not formed (J:11933)

abnormal limb bud morphology ( J:11933 )

abnormal forelimb bud morphology ( J:13018 )

• anterior limb buds are directed dorsad rather than ventrad

absent hindlimb buds ( J:13018 )

• posterior limb buds are absent as the posterior region of the body does not develop

abnormal neural tube morphology ( J:59271 , J:11933 , J:13018 )

• abnormal folding and kinking of the neural folds at E8 that culminates in ectopic tubular epithelial structures lying ventral to the developing endogenous neural folds (J:59271)

• neural tube is slightly irregular at E8.5 and by E9, is markedly irregular in the posterior end; neural tube is more affected in the posterior than anterior end (J:13018)

• exhibit asymmetry of the neural tube in the mid-region at around E9 (J:13018)

• neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube (J:13018)

• in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity (J:13018)

• few cases show fusion between the neural tube and the gut in the posterior region (J:13018)

kinked neural tube ( J:59271 )

absent notochord ( J:13018 )

• notochord is absent, except for fragments in early stages

notochord degeneration ( J:11933 )

abnormal primitive streak formation ( J:11933 )

• backward growth does not occur preventing organization of the posterior axis and emergence of the allantoic placental stalk

abnormal somite development ( J:11933 , J:13018 )

• somites appear normal at early stages but at later stages, they are reduced and by E10, somite tissue is almost absent (J:13018)

abnormal placenta development ( J:11933 )

• results in embryonic death at at E10.75

growth/size/body

abnormal head shape ( J:13018 )

• in a few cases, the head region, particularly the mouth, is malformed

decreased embryo size ( J:11933 , J:13018 )

• structures posterior to the forelimb buds are not formed (J:11933)

cardiovascular system

abnormal dorsal aorta morphology ( J:13018 )

• one of the two dorsal arotae is obliterated by a diverticulum from the neural tube

delayed heart development ( J:13018 )

• heart development is sometimes retarded

abnormal pericardial cavity morphology ( J:13018 )

• commonly, the pericardial cavity is enlarged

hemorrhage ( J:13018 )

• E10 homozygotes contain numerous blood-filled sinuses in the posterior end

hemopericardium ( J:13018 )

• pericardial cavity is often filled with blood at E10

craniofacial

abnormal head shape ( J:13018 )

• in a few cases, the head region, particularly the mouth, is malformed

limbs/digits/tail

abnormal limb bud morphology ( J:11933 )

abnormal forelimb bud morphology ( J:13018 )

• anterior limb buds are directed dorsad rather than ventrad

absent hindlimb buds ( J:13018 )

• posterior limb buds are absent as the posterior region of the body does not develop

short tail ( J:13018 )

nervous system

abnormal nervous system development ( J:13018 )

• no regular segmental dorsal ganglia are formed in E10 embryos although ganglion tissue is found

abnormal neural tube morphology ( J:59271 , J:11933 , J:13018 )

• abnormal folding and kinking of the neural folds at E8 that culminates in ectopic tubular epithelial structures lying ventral to the developing endogenous neural folds (J:59271)

• neural tube is slightly irregular at E8.5 and by E9, is markedly irregular in the posterior end; neural tube is more affected in the posterior than anterior end (J:13018)

• exhibit asymmetry of the neural tube in the mid-region at around E9 (J:13018)

• neural tube sends out branches with secondary lumina and often the branch becomes larger than the primary neural tube (J:13018)

• in some embryos, the neural tube lumen is ruptured to the outside and is continuous with the amniotic cavity (J:13018)

• few cases show fusion between the neural tube and the gut in the posterior region (J:13018)

kinked neural tube ( J:59271 )

integument

abnormal epidermal layer morphology ( J:13018 )

• exhibit transient blistering of the dorsal epithelium, first seen at the time of the formation of the first few somites but is completely gone by the time the embryo has attained the second flexure

bleb ( J:13018 )

• embryos exhibit small paired or unpaired blebs or small vesicles on either side of the mid-line at E8.5-9

homeostasis/metabolism

hemopericardium ( J:13018 )

• pericardial cavity is often filled with blood at E10