About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Grhl2tm1.1Jane
targeted mutation 1.1, Stephen M Jane
MGI:4836381
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Grhl2tm1.1Jane/Grhl2tm1.1Jane involves: 129S1/Sv * BALB/cJ * C57BL/6 MGI:4836384
cx2
 		Grhl2tm1.1Jane/Grhl2tm1.1Jane
Grhl3tm1Jane/Grhl3+ 		involves: 129S1/Sv * BALB/cJ * C57BL/6 MGI:4836389
cx3
 		Grhl2tm1.1Jane/Grhl2+
Grhl3tm1Jane/Grhl3tm1Jane 		involves: 129S1/Sv * BALB/cJ * C57BL/6 MGI:4836387
cx4
 		Grhl2tm1.1Jane/Grhl2+
Grhl3tm1Jane/Grhl3+ 		involves: 129S1/Sv * BALB/cJ * C57BL/6 MGI:4836386
cx5
 		Grhl2tm1.1Jane/Grhl2tm1.1Jane
Grhl3tm1Jane/Grhl3tm1Jane 		involves: 129S1/Sv * BALB/cJ * C57BL/6 MGI:4836385


Genotype
MGI:4836384
hm1
Allelic
Composition		 Grhl2tm1.1Jane/Grhl2tm1.1Jane
Genetic
Background		 involves: 129S1/Sv * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl2tm1.1Jane mutation (2 available); any Grhl2 mutation (41 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

nervous system
incomplete caudal neuropore closure ( J:164805 )
• the posterior neuropore remains open at E10.5

craniofacial
facial cleft ( J:164805 )
• fully penetrant split face malformation

embryo
abnormal neural fold elevation formation ( J:164805 )
• the dorso-lateral hinge points fail to form in the cephalic region by the 15 - 25 somite stage
• however, in areas of the spinal cord above the neural tube defect dorso-lateral hinge formation is seen
incomplete caudal neuropore closure ( J:164805 )
• the posterior neuropore remains open at E10.5

skeleton

growth/size/body
facial cleft ( J:164805 )
• fully penetrant split face malformation




Genotype
MGI:4836389
cx2
Allelic
Composition		 Grhl2tm1.1Jane/Grhl2tm1.1Jane
Grhl3tm1Jane/Grhl3+
Genetic
Background		 involves: 129S1/Sv * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl2tm1.1Jane mutation (2 available); any Grhl2 mutation (41 available)
Grhl3tm1Jane mutation (1 available); any Grhl3 mutation (53 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
spina bifida ( J:164805 )
• fully penetrant thoraco-lumbo-sacral spina bifida
• a small region of the neural tube between the midthoracic region and the hindbrain/cervical cord boundary is closed

skeleton
abnormal vertebral pedicle morphology ( J:164805 )
• splayed vertebral pedicles are seen at the level of T11 in the most severely affected embryos

craniofacial
facial cleft ( J:164805 )
• failure of cranio-facial fusion at E10.5

embryo
spina bifida ( J:164805 )
• fully penetrant thoraco-lumbo-sacral spina bifida
• a small region of the neural tube between the midthoracic region and the hindbrain/cervical cord boundary is closed

growth/size/body
facial cleft ( J:164805 )
• failure of cranio-facial fusion at E10.5




Genotype
MGI:4836387
cx3
Allelic
Composition		 Grhl2tm1.1Jane/Grhl2+
Grhl3tm1Jane/Grhl3tm1Jane
Genetic
Background		 involves: 129S1/Sv * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl2tm1.1Jane mutation (2 available); any Grhl2 mutation (41 available)
Grhl3tm1Jane mutation (1 available); any Grhl3 mutation (53 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
spina bifida ( J:164805 )
• fully penetrant thoraco-lumbo-sacral spina bifida
exencephaly ( J:164805 )
• fully penetrant mid and hindbrain exencephaly
• however, forebrain closure is normal

skeleton
abnormal vertebral pedicle morphology ( J:164805 )
• splayed vertebral pedicles are seen at the level of T11 in the most severely affected embryos

craniofacial
craniofacial phenotype ( J:164805 )
N
• unlike in mice homozygous for Grhl2tm1.1Jane facial fusion is normal

embryo
spina bifida ( J:164805 )
• fully penetrant thoraco-lumbo-sacral spina bifida




Genotype
MGI:4836386
cx4
Allelic
Composition		 Grhl2tm1.1Jane/Grhl2+
Grhl3tm1Jane/Grhl3+
Genetic
Background		 involves: 129S1/Sv * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl2tm1.1Jane mutation (2 available); any Grhl2 mutation (41 available)
Grhl3tm1Jane mutation (1 available); any Grhl3 mutation (53 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal neural tube morphology ( J:164805 )
• neural tube defects of varying severity are seen in 13 percent of embryos
exencephaly ( J:164805 )
• exencephaly involving only the mid- and hindbrain is seen in 5 percent of embryos

skeleton
abnormal vertebral pedicle morphology ( J:164805 )
• splayed vertebral pedicles are seen at the level of T11 in the most severely affected embryos

limbs/digits/tail
curly tail ( J:164805 )
• seen in a few embryos, either alone or in combination with spina bifida or exencephaly

embryo
abnormal neural tube morphology ( J:164805 )
• neural tube defects of varying severity are seen in 13 percent of embryos




Genotype
MGI:4836385
cx5
Allelic
Composition		 Grhl2tm1.1Jane/Grhl2tm1.1Jane
Grhl3tm1Jane/Grhl3tm1Jane
Genetic
Background		 involves: 129S1/Sv * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl2tm1.1Jane mutation (2 available); any Grhl2 mutation (41 available)
Grhl3tm1Jane mutation (1 available); any Grhl3 mutation (53 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
facial cleft ( J:164805 )
• failure of cranio-facial fusion at E10.5

embryo
spina bifida ( J:164805 )
• fully penetrant thoraco-lumbo-sacral spina bifida
• a small region of the neural tube between the midthoracic region and the hindbrain/cervical cord boundary is closed

nervous system
spina bifida ( J:164805 )
• fully penetrant thoraco-lumbo-sacral spina bifida
• a small region of the neural tube between the midthoracic region and the hindbrain/cervical cord boundary is closed

skeleton

growth/size/body
facial cleft ( J:164805 )
• failure of cranio-facial fusion at E10.5




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory