- 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
CAnNCrl.GFF(CB)-Grhl3ct/Cnrm
Status | Available to order |
EMMA ID | EM:02425 |
International strain name | CAnNCrl.GFF(CB)-Grhl3ct/Cnrm |
Alternative name | BALB/c - curly tail |
Strain type | Spontaneous |
Allele/Transgene symbol | Grhl3ct |
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 |
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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)
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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