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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




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory