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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lmo4tm1.1Gng
targeted mutation 1.1, Gordon N Gill
MGI:3574586
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lmo4tm1.1Gng/Lmo4tm1.1Gng involves: 129X1/SvJ MGI:3575660
cx2
Grhl3tm1Bogi/Grhl3tm1Bogi
Lmo4tm1.1Gng/Lmo4tm1.1Gng
involves: 129X1/SvJ * C57BL/6J MGI:3696446


Genotype
MGI:3575660
hm1
Allelic
Composition
Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmo4tm1.1Gng mutation (0 available); any Lmo4 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality increased progressively with time from E10.5 to birth

embryo
• 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/body
• 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 ID Ref(s)
Anencephaly 206500 J:96957




Genotype
MGI:3696446
cx2
Allelic
Composition
Grhl3tm1Bogi/Grhl3tm1Bogi
Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3tm1Bogi mutation (0 available); any Grhl3 mutation (34 available)
Lmo4tm1.1Gng mutation (0 available); any Lmo4 mutation (4 available)
phenotype observed in females
phenotype observed in males
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

embryo
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory