Phenotypes associated with this allele

• Allele Symbol: Lmo4^tm1.1Gng
• Allele Name: targeted mutation 1.1, Gordon N Gill
• Allele ID: MGI:3574586
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmo4^tm1.1Gng/Lmo4^tm1.1Gng	involves: 129X1/SvJ	MGI:3575660
cx2	Grhl3^tm1Bogi/Grhl3^tm1Bogi Lmo4^tm1.1Gng/Lmo4^tm1.1Gng	involves: 129X1/SvJ * C57BL/6J	MGI:3696446

Genotype
MGI:3575660

hm1

• Allelic Composition: Lmo4^tm1.1Gng/Lmo4^tm1.1Gng
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

prenatal lethality, complete penetrance ( J:96957 )

• embryonic lethality increased progressively with time from E10.5 to birth

embryo

decreased embryo size ( J:96957 )

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

abnormal neural fold elevation formation ( J:96957 )

• 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

abnormal embryonic neuroepithelium morphology ( J:96957 )

• increased apoptosis at E10.5 and abnormal patterns of cell proliferation in the ventral neuroepithelium that everts rather than elevates

everted embryonic neuroepithelium ( J:96957 )

• ventral neuroepithelium everts rather than elevates

incomplete rostral neuropore closure ( J:96957 )

• failure of neural tube closure between the caudal border of the forebrain and the rostral border of the hindbrain

growth/size/body

decreased embryo size ( J:96957 )

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

nervous system

increased embryonic neuroepithelium apoptosis ( J:96957 )

• increased apoptosis at E10.5 in the ventral neuroepithelium

abnormal embryonic neuroepithelium morphology ( J:96957 )

• increased apoptosis at E10.5 and abnormal patterns of cell proliferation in the ventral neuroepithelium that everts rather than elevates

everted embryonic neuroepithelium ( J:96957 )

• ventral neuroepithelium everts rather than elevates

incomplete rostral neuropore closure ( J:96957 )

• failure of neural tube closure between the caudal border of the forebrain and the rostral border of the hindbrain

exencephaly ( J:96957 , J:114626 )

• 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 embryonic neuroepithelial cell proliferation ( J:96957 )

• abnormal patterns of cell proliferation in the ventral neuroepithelium at E10.5

vision/eye

eyelids open at birth ( J:114626 )

• 16% exhibit open eyes at birth

cellular

increased embryonic neuroepithelium apoptosis ( J:96957 )

• increased apoptosis at E10.5 in the ventral neuroepithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
anencephaly		DOID:0060668	OMIM:206500	J:96957

Genotype
MGI:3696446

cx2

• Allelic Composition: Grhl3^tm1Bogi/Grhl3^tm1Bogi; Lmo4^tm1.1Gng/Lmo4^tm1.1Gng
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

nervous system

spina bifida ( J:114626 )

• 100% exhibit spina bifida

exencephaly ( J:114626 )

• 100% show exencepahly

vision/eye

eyelids open at birth ( J:114626 )

• 54% show open eyes at birth

limbs/digits/tail

curly tail ( J:114626 )

• 100% exhibit curly tail

embryo

spina bifida ( J:114626 )

• 100% exhibit spina bifida

integument

abnormal epidermal layer morphology ( J:114626 )

• exhibit an enhanced epidermis terminal differentiation defect than seen in single Grhl3 homozygotes

abnormal epidermis stratum corneum morphology ( J:114626 )

• 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

abnormal corneocyte envelope morphology ( J:114626 )

• cornified envelopes are essentially absent