CAnNCrl.GFF(CB)-Grhl3^ct/Cnrm

Status	Available to order
EMMA ID	EM:02425
Citation information	RRID:IMSR_EM:02425 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	CAnNCrl.GFF(CB)-Grhl3^ct/Cnrm
Alternative name	BALB/c - curly tail
Strain type	Spontaneous
Allele/Transgene symbol	Grhl3^ct
Gene/Transgene symbol	Grhl3

Information from provider

Provider	Madeleine BROUNS
Provider affiliation	Maastricht University
Genetic information	Hypomorphic allele of grainyhead-like 3; exact mutation unknown.
Phenotypic information	Homozygotes display curled tails and/or spina bifida with incomplete penetrance. A small subset of homozygotes displays exencephaly.
Breeding history	Homozygous curly tail mice were crossed with BALB/c inbred mice. Heterozygous offspring was intercrossed. Affected (homozygous) offspring was crossed with BALB/c; 5 crosses with BALB/c were performed according to this scheme (see also PubMed_ID 15678492). The curly tail critical region present in the current strain is 1 megabase.
References	Curly tail: a 50-year history of the mouse spina bifida model.;van Straaten H W, Copp A J, ;2001;Anatomy and embryology;203;225-37; 11396850 Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.;Ting Stephen B, Wilanowski Tomasz, Auden Alana, Hall Mark, Voss Anne K, Thomas Tim, Parekh Vishwas, Cunningham John M, Jane Stephen M, ;2003;Nature medicine;9;1513-9; 14608380 Toward positional cloning of the curly tail gene.;Brouns Madeleine R, Peeters Marian C E, Geurts Jan M, Merckx Diane M, Engelen John J, Hekking Johan W M, Terwindt-Rouwenhorst Els A W, Oosterbaan Mariet E A C, Geraedts Joep P M, van Straaten Henny W, ;2005;Birth defects research. Part A, Clinical and molecular teratology;73;154-61; 15678492 Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.;Gustavsson Peter, Greene Nicholas D E, Lad Dina, Pauws Erwin, de Castro Sandra C P, Stanier Philip, Copp Andrew J, ;2007;Human molecular genetics;16;2640-6; 17720888

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Van der Woude syndrome / Orphanet_888

IMPC phenotypes (gene matching)

increased startle reflex / IMPC
increased circulating phosphate level / IMPC
increased circulating glucose level / IMPC
decreased circulating alkaline phosphatase level / IMPC
decreased blood urea nitrogen level / IMPC
abnormal eye morphology / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal retina morphology / IMPC
increased circulating amylase level / IMPC
increased circulating calcium level / IMPC
decreased circulating triglyceride level / IMPC
abnormal locomotor activation / IMPC

MGI phenotypes (allele matching)

curly tail / MGI
exencephaly / MGI
spina bifida cystica / MGI
spina bifida / MGI
abnormal neural tube closure / MGI
fetal growth retardation / MGI
abnormal dorsal-ventral axis patterning / MGI
anencephaly / MGI
delayed neural tube closure / MGI
open neural tube / MGI

MGI phenotypes (gene matching)

cleft palate / MGI
abnormal vertebrae morphology / MGI
kyphosis / MGI
gastrointestinal hemorrhage / MGI
abnormal stomach epithelium morphology / MGI
abnormal intestine morphology / MGI
kinked tail / MGI
abnormal brain development / MGI
exencephaly / MGI
open neural tube / MGI
scaly skin / MGI
skin lesions / MGI
abnormal epidermal layer morphology / MGI
thick epidermis / MGI
epidermal hyperplasia / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal epidermis stratum granulosum morphology / MGI
abnormal epidermis stratum corneum morphology / MGI
eyelids open at birth / MGI
excessive scratching / MGI
abnormal lipid level / MGI
decreased embryo size / MGI
abnormal dorsal-ventral axis patterning / MGI
anencephaly / MGI
neoplasm / MGI
abnormal neural tube morphology / MGI
no abnormal phenotype detected / MGI
delayed neural tube closure / MGI
abnormal keratinocyte differentiation / MGI
impaired skin barrier function / MGI
curly tail / MGI
spina bifida / MGI
abnormal neural tube closure / MGI
abnormal craniofacial development / MGI
fetal growth retardation / MGI
abnormal vertebral spinous process morphology / MGI
absent vertebral arch / MGI
split vertebrae / MGI
thick epidermis stratum spinosum / MGI
increased keratinocyte proliferation / MGI
abnormal corneocyte envelope morphology / MGI
abnormal palate development / MGI
perinatal lethality, complete penetrance / MGI
preweaning lethality, complete penetrance / MGI
lethality during fetal growth through weaning, complete penetrance / MGI
spina bifida cystica / MGI
abnormal periderm development / MGI
abnormal corneocyte morphology / MGI

Literature references

Curly tail: a 50-year history of the mouse spina bifida model.;van Straaten H W, Copp A J, ;2001;Anatomy and embryology;203;225-37; 11396850
Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.;Ting Stephen B, Wilanowski Tomasz, Auden Alana, Hall Mark, Voss Anne K, Thomas Tim, Parekh Vishwas, Cunningham John M, Jane Stephen M, ;2003;Nature medicine;9;1513-9; 14608380
Toward positional cloning of the curly tail gene.;Brouns Madeleine R, Peeters Marian C E, Geurts Jan M, Merckx Diane M, Engelen John J, Hekking Johan W M, Terwindt-Rouwenhorst Els A W, Oosterbaan Mariet E A C, Geraedts Joep P M, van Straaten Henny W, ;2005;Birth defects research. Part A, Clinical and molecular teratology;73;154-61; 15678492
Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.;Gustavsson Peter, Greene Nicholas D E, Lad Dina, Pauws Erwin, de Castro Sandra C P, Stanier Philip, Copp Andrew J, ;2007;Human molecular genetics;16;2640-6; 17720888

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Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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CAnNCrl.GFF(CB)-Grhl3ct/Cnrm