Phenotypes Associated with This Genotype

Genotype
MGI:2179049

• Allelic Composition: Hus1^tm1Led/Hus1^tm1Led
• Genetic Background: either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:63869 )

• about 50% of embryos are alive at E9.5 and all are absent at E11.5

• Background Sensitivity: on a 129S6/SvEvTac background all embryos are dead by E9.5 compared to a mixed 129S6/SvEvTac and Black Swiss where about 50% of embryos are alive at E9.5

embryo

abnormal vitelline vasculature morphology ( J:63869 )

• the yolk sac lacks prominent vasculature at E9.5

increased embryonic tissue cell apoptosis ( J:63869 )

• increased numbers of apoptotic cells are seen in embryonic and extraembryonic tissues at E7.0 - E8.5; however, embryonic cell proliferation appears normal

failure of initiation of embryo turning ( J:63869 )

• at E8.5 embryos fail to initiate turning and at E9.5 still have not turned

embryonic growth retardation ( J:63869 )

• delayed development is seen at E8.5

decreased embryo size ( J:63869 )

• embryos are smaller than wild-type littermates at E7.5, E8.5, and E9.5

absent limb buds ( J:63869 )

• at E9.5 limb bud formation is not be detected

incomplete rostral neuropore closure ( J:63869 )

• at E9.5 the head folds usually fail to close

kinked neural tube ( J:63869 )

• seen at E9.5

abnormal somite development ( J:63869 )

• at E9.5 homozygous embryos have 8-13 somites compared to 20-24 in normal embryos

abnormal somite shape ( J:63869 )

abnormal allantois morphology ( J:63869 )

• in embryos where chorioallantoic fusion fails the allantois is located at the posterior of the embryo and appears swollen and bulbous

abnormal placenta labyrinth morphology ( J:63869 )

• the labyrinthine layer is abnormally compact

abnormal placental labyrinth vasculature morphology ( J:63869 )

• avascular

abnormal visceral yolk sac morphology ( J:63869 )

• at E9.5 the yolk sac appears thin and fragile

abnormal visceral yolk sac blood island morphology ( J:63869 )

• at E9.5, the blood islands contain mostly atypical, pyknotic cells

abnormal embryonic hematopoiesis ( J:63869 )

• few blood cells are seen at E9.5 in the yolk sac and none are found in the primitive umbilicus

failure of chorioallantoic fusion ( J:63869 )

• failure of chorioallantoic fusion is seen in 4 of 23 embryos

cellular

increased embryonic tissue cell apoptosis ( J:63869 )

• increased numbers of apoptotic cells are seen in embryonic and extraembryonic tissues at E7.0 - E8.5; however, embryonic cell proliferation appears normal

absent fibroblast proliferation ( J:63869 )

• homozygous MEFs fail to proliferate in culture

chromosome breakage ( J:63869 )

• increased chromosomal abnormalities are seen with 55% of metaphases from homozygous embryos displaying at least 1 abnormality compared to 19% of heterozygous and wild-type metaphases

• 44% of metaphases from homozygous embryos contain more than 1 aberration and 27% contain more than 5 aberrations

nervous system

incomplete rostral neuropore closure ( J:63869 )

• at E9.5 the head folds usually fail to close

kinked neural tube ( J:63869 )

• seen at E9.5

growth/size/body

embryonic growth retardation ( J:63869 )

• delayed development is seen at E8.5

decreased embryo size ( J:63869 )

• embryos are smaller than wild-type littermates at E7.5, E8.5, and E9.5

limbs/digits/tail

absent limb buds ( J:63869 )

• at E9.5 limb bud formation is not be detected

hematopoietic system

abnormal embryonic hematopoiesis ( J:63869 )

• few blood cells are seen at E9.5 in the yolk sac and none are found in the primitive umbilicus

cardiovascular system

abnormal placental labyrinth vasculature morphology ( J:63869 )

• avascular

abnormal vitelline vasculature morphology ( J:63869 )

• the yolk sac lacks prominent vasculature at E9.5