mortality/aging
• no presumed homozygotes are born; homozygotes begin to die at ~E15-15.5 from anemia
• an occasional mutant survives until birth
|
nervous system
spina bifida
(
J:3399
)
• 4/330 embryos aged E14.5-17.5 displayed spina bifida
|
• at E10.5-12.5, small number of embryos, presumably homozygous, have brain abnormalities, including a collapsed brain, pseudoencephaly or a narrowed brain region
• from E14.5-17.5, some embryos show abnormal brain development (3/330) as described in younger embryos
|
• one E17.5 embryo displayed a bleb near the midline in the cervical region
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hematopoietic system
• starting around E13.5 and peaking at E14.5, presumed homozygotes display anemia recognized by overall paleness of the embryos
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cardiovascular system
• in affected (anemic) animals, individual clumps or red blood cells can be seen in umbilical vessels; in controls, vessels are uniformly red with normal blood flow
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reproductive system
infertility
(
J:5547
)
• mice carrying two mutant alleles are sterile
|
pigmentation
• transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair
|
embryo
spina bifida
(
J:3399
)
• 4/330 embryos aged E14.5-17.5 displayed spina bifida
|
integument
• transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair
|