Mouse Genome Informatics
hm1
    Lmo4tm1.1Gng/Lmo4tm1.1Gng
involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryonic lethality increased progressively with time from E10.5 to birth

embryogenesis
• varied penetrance of growth retardation with some mutants that where small at E10.5 and others that were normal in size
• failure of neural fold elevation and folding resulting in the failure of neural tube closure between the caudal border of the forebrain and the rostral border of the hindbrain
• increased apoptosis at E10.5 and abnormal patterns of cell proliferation in the ventral neuroepithelium that everts rather than elevates
• ventral neuroepithelium everts rather than elevates
• failure of neural tube closure between the caudal border of the forebrain and the rostral border of the hindbrain

growth/size
• varied penetrance of growth retardation with some mutants that where small at E10.5 and others that were normal in size

nervous system
• increased apoptosis at E10.5 and abnormal patterns of cell proliferation in the ventral neuroepithelium that everts rather than elevates
• ventral neuroepithelium everts rather than elevates
• failure of neural tube closure between the caudal border of the forebrain and the rostral border of the hindbrain
• varied phenotypic penetrance with some mutants exhibiting exencephaly at early times (E9.5 to E14.5) and others having normal skull closure (J:96957)
• 55% show exencephaly (J:114626)
• abnormal patterns of cell proliferation in the ventral neuroepithelium at E10.5
• increased apoptosis at E10.5 in the ventral neuroepithelium

vision/eye
• 16% exhibit open eyes at birth

Mouse Models of Human Disease
OMIM IDRef(s)
Anencephaly 206500 J:96957


Mouse Genome Informatics
cx2
    Grhl3tm1Bogi/Grhl3tm1Bogi
Lmo4tm1.1Gng/Lmo4tm1.1Gng

involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• 100% exhibit spina bifida
• 100% show exencepahly

vision/eye
• 54% show open eyes at birth

limbs/digits/tail
• 100% exhibit curly tail

embryogenesis
• 100% exhibit spina bifida

integument
• exhibit an enhanced epidermis terminal differentiation defect than seen in single Grhl3 homozygotes
• skin shows impaired stratum corneum formation with most cells in the top of the epidermis containing nuclei; many cells show enlarged vacuolar-like structure not normally found in the granular layer
• the stratum corneum abnormality is primarily found at the anterior part of the embryo in the skin covering the head and upper body regions
• cornified envelopes are essentially absent