All Phenotypes Grhl3<tm1Bogi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grhl3^tm1Bogi/Grhl3^tm1Bogi	involves: C57BL/6 * C57BL/6J	MGI:5697288
hm2	Grhl3^tm1Bogi/Grhl3^tm1Bogi	involves: C57BL/6J	MGI:3696445
ht3	Grhl3^tm1Bogi/Grhl3⁺	involves: C57BL/6J	MGI:5697289
cx4	Grhl3^tm1Bogi/Grhl3⁺ Irf6^{Gt(OST398253)Lex}/Irf6⁺	involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J	MGI:5697287
cx5	Grhl3^tm1Bogi/Grhl3^tm1Bogi Lmo4^tm1.1Gng/Lmo4^tm1.1Gng	involves: 129X1/SvJ * C57BL/6J	MGI:3696446

Allelic Composition	Grhl3^tm1Bogi/Grhl3^tm1Bogi
Genetic Background	involves: C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3^tm1Bogi mutation (0 available); any Grhl3 mutation (53 available)

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

craniofacial

abnormal palate development ( J:226218 )

• E15.5 fetuses have bilateral oral epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces

cleft palate ( J:226218 )

• 1 of 6 fetuses exhibit cleft palate at E15.5

digestive/alimentary system

abnormal palate development ( J:226218 )

• E15.5 fetuses have bilateral oral epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces

cleft palate ( J:226218 )

• 1 of 6 fetuses exhibit cleft palate at E15.5

embryo

abnormal periderm development ( J:226218 )

• expression of Krt6 and activated Notch 1, markers for the periderm, are reduced in the epithelium superficial to the tooth germs, indicating impaired development of the oral periderm

growth/size/body

abnormal palate development ( J:226218 )

• E15.5 fetuses have bilateral oral epithelial adhesions between the palatal shelves and the lingual, mandibular, and maxillary surfaces

cleft palate ( J:226218 )

• 1 of 6 fetuses exhibit cleft palate at E15.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Van der Woude syndrome		DOID:0060239	OMIM:119300 OMIM:606713	J:226218

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

mortality/aging

perinatal lethality, complete penetrance ( J:114626 )

• die at birth

nervous system

abnormal neural tube closure ( J:114626 )

• exhibit neural tube closure defects

spina bifida ( J:114626 )

• 100% exhibit spina bifida

exencephaly ( J:114626 )

• 14% exhibit exencephaly

vision/eye

eyelids open at birth ( J:114626 )

• 7% exhibit open eyes at birth

cardiovascular system

intestinal hemorrhage ( J:114626 )

• exhibit blood in the intestinal lumen

limbs/digits/tail

curly tail ( J:114626 )

• 100% exhibit tail abnormalities, primarily curly tail

digestive/alimentary system

intestinal hemorrhage ( J:114626 )

• exhibit blood in the intestinal lumen

abnormal intestine morphology ( J:114626 )

• exhibit a shorter intestine

abnormal stomach epithelium morphology ( J:114626 )

• the forestomach epithelium shows reduced number of granules in the superficial layers and altered expression of differentiation markers, indicating impaired terminal differentiation of the forestomach epithelium

homeostasis/metabolism

impaired skin barrier function ( J:114626 )

• exhibit impaired barrier formation at E16.5 and E18.5

abnormal lipid level ( J:114626 )

• lipid composition of the epidermis is altered with increased phospholipids and decreased fatty acids

embryo

abnormal neural tube closure ( J:114626 )

• exhibit neural tube closure defects

spina bifida ( J:114626 )

• 100% exhibit spina bifida

integument

increased keratinocyte proliferation ( J:114626 )

• mild, but significant, increase in keratinocyte proliferation in the basal cell layer

impaired skin barrier function ( J:114626 )

• exhibit impaired barrier formation at E16.5 and E18.5

abnormal epidermal layer morphology ( J:114626 )

• exhibit altered terminal differentiation of the epidermis as indicated by altered expression of terminal differentiation markers

• lipid composition of the epidermis is altered with increased phospholipids and decreased fatty acids

abnormal keratinocyte differentiation ( J:114626 )

• exhibit altered terminal differentiation of the epidermis as indicated by altered expression of terminal differentiation markers

abnormal epidermis stratum basale morphology ( J:114626 )

• basal layer appears disorganized at E18.5

abnormal epidermis stratum corneum morphology ( J:114626 )

• cornified layer is more compact and often contains nuclei at E18.5

• the stratum corneum is more compact and the corneocytes are enlarged with irregular surface structure

• the space between corneocytes, where lipid lamellar layer normally exists, contains residual material not seen in wild-type

abnormal corneocyte morphology ( J:114626 )

• corneocytes are enlarged with irregular surface structure

abnormal epidermis stratum granulosum morphology ( J:114626 )

• the granular layer is expanded/thicker due to an increased number of cell layers and the cells of the most superficial layers are more cuboidal than normal at E18.5

• intracellular junctions in the top of the granular layer show abnormal separation of cells between desmosomal regions, creating the appearance of periodic intracelllualr spaces

thick epidermis stratum spinosum ( J:114626 )

• spinous layer is thicker at E18.5

epidermal hyperplasia ( J:114626 )

thick epidermis ( J:114626 )

• exhibit thickening of the epidermis by E16.5 that becomes more pronounced at E18.5

cellular

abnormal keratinocyte differentiation ( J:114626 )

• exhibit altered terminal differentiation of the epidermis as indicated by altered expression of terminal differentiation markers

increased keratinocyte proliferation ( J:114626 )

• mild, but significant, increase in keratinocyte proliferation in the basal cell layer

Allelic Composition	Grhl3^tm1Bogi/Grhl3⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3^tm1Bogi mutation (0 available); any Grhl3 mutation (53 available)

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

craniofacial

abnormal craniofacial development ( J:226218 )

• bilateral epithelial abnormalities throughout the oral cavity and most frequently posterior to the tooth germs at E13.5, and include oral fusions (which have a loss of both the periderm and the basal epithelial layers)

• oral fusions occur between the mandible and either palate or the maxilla

• expression of p63 is reduced, indicating loss of basal epithelial cells at sites of the oral fusions

embryo

abnormal periderm development ( J:226218 )

• expression of Krt6, a marker for the periderm, is reduced, indicating loss or oral periderm cells

Allelic Composition	Grhl3^tm1Bogi/Grhl3⁺ Irf6^{Gt(OST398253)Lex}/Irf6⁺
Genetic Background	involves: 129S5/SvEvBrd * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3^tm1Bogi mutation (0 available); any Grhl3 mutation (53 available)
Irf6^{Gt(OST398253)Lex} mutation (1 available); any Irf6 mutation (26 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:226218 )

• fewer than the expected numbers of mutants are seen at P21

prenatal lethality, incomplete penetrance ( J:226218 )

• 12% rate of resorbing embryos

craniofacial

abnormal craniofacial development ( J:226218 )

• oral adhesions at areas superficial to the tooth germ and oral adhesions (which have a loss of periderm) and fusions (which have a loss of both the periderm and the basal epithelial layers) posterior to the tooth germ

embryo

abnormal periderm development ( J:226218 )

• expression of Krt6, a marker for the periderm, is reduced more than in either single heterozygote, indicating loss of oral periderm cells

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3^tm1Bogi mutation (0 available); any Grhl3 mutation (53 available)
Lmo4^tm1.1Gng mutation (0 available); any Lmo4 mutation (9 available)

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

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

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