Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3tm1Jane mutation
(1 available);
any
Grhl3 mutation
(53 available)
|
|
|
nervous system
|
|
• fully penetrant thoraco-lumbo-sacral spina bifida
|
skeleton
|
|
• splayed vertebral pedicles are seen at the level of T7
|
embryo
|
|
• fully penetrant thoraco-lumbo-sacral spina bifida
|
cellular
|
|
• in vivo and cultured keratinocyte from E18.5 mice with increased colony numbers in soft agar
|
integument
|
|
• in vivo and cultured keratinocyte from E18.5 mice with increased colony numbers in soft agar
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3tm1Jane mutation
(1 available);
any
Grhl3 mutation
(53 available)
|
|
|
mortality/aging
|
|
• mutant embryos were represented in Mendelian ratios up to E18.5; no mice survived to weaning
|
integument
embryo
|
|
• embryos show growth retardation
|
|
|
• all embryos had thoracolumbosacral spina bifida and curled tails
• the neural plate appeared to furrow normally, but neural foled elevation did not occur
• the incidence of spina bifida could not be reduced with folate treatment
|
growth/size/body
|
|
• embryos show growth retardation
|
limbs/digits/tail
skeleton
|
|
• full body skeletal preparations showed abnormalities in the vertebral column
|
|
|
• splayed spinal processes
|
|
|
• lack of vertebral arch formation
|
nervous system
|
|
• all embryos had thoracolumbosacral spina bifida and curled tails
• the neural plate appeared to furrow normally, but neural foled elevation did not occur
• the incidence of spina bifida could not be reduced with folate treatment
|
|
|
• 2% of mutants had coincident exencephaly
|
Allelic
Composition |
Grhl3tm1Jane/Grhl3+
|
|
Genetic
Background |
involves: 129S1/Sv |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grhl3tm1Jane mutation
(1 available);
any
Grhl3 mutation
(53 available)
|
|
|
neoplasm
|
N |
• mice are almost completely safe-guarded against skin squamous cell carcinoma formation
|
mortality/aging
|
|
• die between E18.5 and weaning
|
nervous system
|
|
• in the lumbo-sacral region in almost all embryos
|
embryo
|
|
• in the lumbo-sacral region in almost all embryos
|
Allelic
Composition |
Grhl3ct/Grhl3tm1Jane
|
|
Genetic
Background |
involves: 129S1/Sv * C57BL/6 * STOCK ct/J |
|
|
|
nervous system
|
|
• the incidence of spina bifida in these embryos was higher than reported for ct homozygotes (31% vs 12%, respectively)
• the extent of the spina bifida more closely resembled ct (lumbosacral spina bifida) than the null allele (thorocolumbosacral)
• 14% of the mice had tail flexion defects only
• 5% of mice with this genotype were normal
|
embryo
|
|
• the incidence of spina bifida in these embryos was higher than reported for ct homozygotes (31% vs 12%, respectively)
• the extent of the spina bifida more closely resembled ct (lumbosacral spina bifida) than the null allele (thorocolumbosacral)
• 14% of the mice had tail flexion defects only
• 5% of mice with this genotype were normal
|
mortality/aging
|
|
• all die within 7 weeks of tamoxifen treatment
|
integument
|
|
• regression of skin barrier function after tamoxifen treatment
• dye penetration is variegated matching the pattern of cre mediated gene deletion
|
|
|
• after tamoxifen treatment gross abnormalities and increased fragility are seen
|
|
|
• after tamoxifen treatment
|
homeostasis/metabolism
integument
|
|
• authors state that mice exhibit a phenotype identical to Grhl3tm1Jane/Grhl3tm3.1Jane Tg(KRT14-cre)8Brn mice
|
|
|
• authors state that mice exhibit a phenotype identical to Grhl3tm1Jane/Grhl3tm3.1Jane Tg(KRT14-cre)8Brn mice
|
neoplasm
|
|
• authors state that mice exhibit a phenotype identical to Grhl3tm1Jane/Grhl3tm3.1Jane Tg(KRT14-cre)8Brn mice
|
mortality/aging
|
|
• present in expected numbers at E18.5 but all died by P3 with most lost during the first 48 hours after birth
|
integument
|
|
• at P2 excessive fluid loss and regression of skin barrier function leads to dehydration and death
|
|
|
• loss of cornified envelope integrity by P2
|
homeostasis/metabolism
integument
|
N |
• from E18.5 through 8 weeks, mice exhibit normal skin barrier formation
(J:178952)
• no overt skin barrier defect or abnormality of the cornified envelope of the stratum corneum from birth to 6 weeks of age
(J:233531)
|
|
|
• spontaneously in aged mice affecting the snout and neck
• in 4 weeks after DMBA/TPA treatment
|
|
|
• spontaneously in aged mice affecting the snout and neck
• in 4 weeks after DMBA/TPA treatment
|
neoplasm
|
|
• 4 weeks after DMBA/TPA treatment, mice develop skin papillomas many which progress to squamous cell carcinomas unlike control mice
|
|
|
• spontaneously in aged mice affecting the snout and neck
• in 4 weeks after DMBA/TPA treatment
|
|
|
• spontaneously in aged mice affecting the snout and neck
• in 4 weeks after DMBA/TPA treatment
|
homeostasis/metabolism
mortality/aging
|
N |
• present in expected numbers at E18.5 and 6 weeks of age
|
integument
|
N |
• no evidence of skin barrier dysfunction was seen
|
integument
|
|
• in DMBA/TPA treated mice
|
|
|
• in DMBA/TPA treated mice to a greater extent than in either single heterozygote
|
neoplasm
|
|
• in DMBA/TPA treated mice
|
|
|
• in DMBA/TPA treated mice to a greater extent than in either single heterozygote
|
nervous system
|
|
• 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
|
|
• splayed vertebral pedicles are seen at the level of T11 in the most severely affected embryos
|
craniofacial
|
|
• failure of cranio-facial fusion at E10.5
|
embryo
|
|
• 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
|
|
• failure of cranio-facial fusion at E10.5
|
nervous system
|
|
• neural tube defects of varying severity are seen in 13 percent of embryos
|
|
|
• exencephaly involving only the mid- and hindbrain is seen in 5 percent of embryos
|
skeleton
|
|
• splayed vertebral pedicles are seen at the level of T11 in the most severely affected embryos
|
limbs/digits/tail
|
|
• seen in a few embryos, either alone or in combination with spina bifida or exencephaly
|
embryo
|
|
• neural tube defects of varying severity are seen in 13 percent of embryos
|
craniofacial
|
|
• failure of cranio-facial fusion at E10.5
|
embryo
|
|
• 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
|
|
• 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
|
|
• failure of cranio-facial fusion at E10.5
|
nervous system
|
|
• fully penetrant thoraco-lumbo-sacral spina bifida
|
|
|
• fully penetrant mid and hindbrain exencephaly
• however, forebrain closure is normal
|
skeleton
|
|
• splayed vertebral pedicles are seen at the level of T11 in the most severely affected embryos
|
craniofacial
|
N |
• unlike in mice homozygous for Grhl2tm1.1Jane facial fusion is normal
|
embryo
|
|
• fully penetrant thoraco-lumbo-sacral spina bifida
|
Analysis Tools