- abnormal thyroid gland development / MGI
- cleft palate / MGI
- abnormal hair follicle orientation / MGI
- increased curvature of hairs / MGI
- waved hair / MGI
- sparse hair / MGI
- abnormal coat appearance / MGI
- decreased circulating levels of thyroid hormone / MGI
- abnormal hair shaft morphology / MGI
- increased circulating thyroid-stimulating hormone level / MGI
- absent thyroid gland / MGI
- palatal shelves fail to meet at midline / MGI
- postnatal lethality, complete penetrance / MGI
B6.129-Foxe1tm1Rdl/Cnrm
Status | Available to order |
EMMA ID | EM:00183 |
International strain name | B6.129-Foxe1tm1Rdl/Cnrm |
Alternative name | Titf2-KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Foxe1tm1Rdl |
Gene/Transgene symbol | Foxe1 |
Information from provider
Provider | Roberto Di Lauro |
Provider affiliation | Staz. Zoologica-Napoli |
Genetic information | A neo-resistance cassette was inserted into the coding region of Foxe1 (or Titf2). |
Phenotypic information | Athyreosis, cleft palate. Model for cleft palate and congenital hypothyroidism. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Bamforth-Lazarus syndrome / Orphanet_1226
- Familial papillary or follicular thyroid carcinoma / Orphanet_319487
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- cleft palate / MGI
- abnormal hair follicle orientation / MGI
- increased curvature of hairs / MGI
- waved hair / MGI
- sparse hair / MGI
- abnormal coat appearance / MGI
- decreased circulating levels of thyroid hormone / MGI
- abnormal thyroid gland development / MGI
- abnormal hair shaft morphology / MGI
- increased circulating thyroid-stimulating hormone level / MGI
- absent thyroid gland / MGI
- palatal shelves fail to meet at midline / MGI
- postnatal lethality, complete penetrance / MGI
Literature references
- A mouse model for hereditary thyroid dysgenesis and cleft palate.;De Felice M, Ovitt C, Biffali E, Rodriguez-Mallon A, Arra C, Anastassiadis K, Macchia P E, Mattei M G, Mariano A, Schöler H, Macchia V, Di Lauro R, ;1998;Nature genetics;19;395-8; 9697704
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