C57BL/6N-Shhtm1a(EUCOMM)Wtsi/H
Status | Available to order |
EMMA ID | EM:07782 |
International strain name | C57BL/6N-Shhtm1a(EUCOMM)Wtsi/H |
Alternative name | EPD0339_3_A12 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Shhtm1a(EUCOMM)Wtsi |
Gene/Transgene symbol | Shh |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | MRC, Medical Research Council |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone EPD0339_3_A12. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Alobar holoprosencephaly / Orphanet_93925
- Triphalangeal thumb-polysyndactyly syndrome / Orphanet_2950
- Midline interhemispheric variant of holoprosencephaly / Orphanet_93926
- Colobomatous microphthalmia / Orphanet_98938
- Polydactyly of a triphalangeal thumb / Orphanet_93336
- Syndactyly type 4 / Orphanet_93405
- Hypoplastic tibiae-postaxial polydactyly syndrome / Orphanet_3332
- Lobar holoprosencephaly / Orphanet_93924
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome / Orphanet_476119
- Microform holoprosencephaly / Orphanet_280200
- Septopreoptic holoprosencephaly / Orphanet_280195
- Radial hemimelia / Orphanet_93321
- Semilobar holoprosencephaly / Orphanet_220386
- Holoprosencephaly / Orphanet_2162
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome / Orphanet_988
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- absent scala media / MGI
- absent endolymphatic duct / MGI
- abnormal neurocranium morphology / MGI
- abnormal frontal bone morphology / MGI
- abnormal vertebrae morphology / MGI
- absent vertebrae / MGI
- abnormal rib morphology / MGI
- abnormal cartilage morphology / MGI
- abnormal cartilage development / MGI
- abnormal heart morphology / MGI
- abnormal hair follicle morphology / MGI
- absent hair follicles / MGI
- abnormal hair follicle orientation / MGI
- absent hair follicle inner root sheath / MGI
- alopecia / MGI
- abnormal craniofacial morphology / MGI
- microcephaly / MGI
- abnormal cranium morphology / MGI
- absent mouth / MGI
- abnormal maxilla morphology / MGI
- abnormal digestive system morphology / MGI
- abnormal esophagus morphology / MGI
- abnormal stomach glandular epithelium morphology / MGI
- abnormal foregut morphology / MGI
- abnormal pulmonary artery morphology / MGI
- abnormal colon morphology / MGI
- abnormal small intestine morphology / MGI
- short limbs / MGI
- absent forelimb / MGI
- abnormal hindlimb morphology / MGI
- absent hindlimb / MGI
- adactyly / MGI
- polydactyly / MGI
- syndactyly / MGI
- oligodactyly / MGI
- abnormal autopod morphology / MGI
- abnormal liver development / MGI
- abnormal smooth muscle morphology / MGI
- decreased brain size / MGI
- abnormal forebrain morphology / MGI
- abnormal telencephalon morphology / MGI
- cerebellum hypoplasia / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- absent floor plate / MGI
- absent notochord / MGI
- abnormal motor neuron morphology / MGI
- decreased motor neuron number / MGI
- decreased spinal cord size / MGI
- abnormal enteric neuron morphology / MGI
- abnormal lung morphology / MGI
- abnormal lung development / MGI
- pulmonary hypoplasia / MGI
- thick epidermis / MGI
- epidermal hyperplasia / MGI
- abnormal dermal layer morphology / MGI
- decreased body weight / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- abnormal vasculogenesis / MGI
- abnormal embryo development / MGI
- abnormal somite shape / MGI
- abnormal embryo size / MGI
- decreased embryo size / MGI
- abnormal dorsal-ventral axis patterning / MGI
- perinatal lethality / MGI
- abnormal eye morphology / MGI
- abnormal ear morphology / MGI
- abnormal limb morphology / MGI
- abnormal axial skeleton morphology / MGI
- abnormal limb bone morphology / MGI
- abnormal craniofacial bone morphology / MGI
- abnormal cardiovascular system morphology / MGI
- abnormal respiratory system morphology / MGI
- abnormal kidney morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- decreased brain weight / MGI
- abnormal pharynx morphology / MGI
- abnormal bronchus morphology / MGI
- abnormal tracheal smooth muscle morphology / MGI
- brachyphalangia / MGI
- brachydactyly / MGI
- small stomach / MGI
- absent tibia / MGI
- small olfactory bulb / MGI
- short tibia / MGI
- short fibula / MGI
- abnormal posterior semicircular canal morphology / MGI
- absent cartilage / MGI
- abnormal joint morphology / MGI
- no phenotypic analysis / MGI
- abnormal superior semicircular canal morphology / MGI
- abnormal tracheal cartilage morphology / MGI
- anal atresia / MGI
- absent lateral semicircular canal / MGI
- fused joints / MGI
- abnormal duodenum morphology / MGI
- abnormal digestive organ placement / MGI
- tracheoesophageal fistula / MGI
- decreased rib number / MGI
- abnormal optic vesicle formation / MGI
- nervous system phenotype / MGI
- abnormal nervous system morphology / MGI
- abnormal hair follicle development / MGI
- abnormal long bone morphology / MGI
- abnormal submandibular gland morphology / MGI
- abnormal hair shaft morphology / MGI
- abnormal forelimb zeugopod morphology / MGI
- abnormal hindlimb zeugopod morphology / MGI
- abnormal heart left atrium morphology / MGI
- embryonic growth retardation / MGI
- abnormal lung vasculature morphology / MGI
- abnormal spinal cord interneuron morphology / MGI
- abnormal prenatal growth/weight/body size / MGI
- decreased fetal size / MGI
- fetal growth retardation / MGI
- abnormal optic stalk morphology / MGI
- abnormal optic cup morphology / MGI
- abnormal embryonic/fetal subventricular zone morphology / MGI
- abnormal postnatal subventricular zone morphology / MGI
- absent vestibulocochlear ganglion / MGI
- absent vestibular saccule / MGI
- bowed tibia / MGI
- absent utricle / MGI
- bowed fibula / MGI
- abnormal respiratory conducting tube morphology / MGI
- occipital bone foramen / MGI
- absent tracheal cartilage rings / MGI
- cervical vertebral fusion / MGI
- short metacarpal bones / MGI
- notochord degeneration / MGI
- abnormal gallbladder morphology / MGI
- holoprosencephaly / MGI
- cyclopia / MGI
- gastric metaplasia / MGI
- abnormal humerus morphology / MGI
- abnormal phalanx morphology / MGI
- limbs/digits/tail phenotype / MGI
- homeostasis/metabolism phenotype / MGI
- embryo phenotype / MGI
- behavior/neurological phenotype / MGI
- absent fibula / MGI
- stomach epithelial hyperplasia / MGI
- abnormal skeleton morphology / MGI
- abnormal vascular smooth muscle morphology / MGI
- abnormal cell physiology / MGI
- abnormal otic vesicle development / MGI
- increased apoptosis / MGI
- annular pancreas / MGI
- abnormal limb development / MGI
- abnormal nasal pit morphology / MGI
- slow postnatal weight gain / MGI
- hemimelia / MGI
- absent external male genitalia / MGI
- absent external female genitalia / MGI
- abnormal cystic duct morphology / MGI
- abnormal dermis papillary layer morphology / MGI
- acephaly / MGI
- decreased keratinocyte proliferation / MGI
- abnormal atrium myocardium morphology / MGI
- absent pulmonary vein / MGI
- fusion of atlas and odontoid process / MGI
- abnormal lung saccule morphology / MGI
- impaired lung lobe morphogenesis / MGI
- abnormal branching involved in lung morphogenesis / MGI
- impaired branching involved in bronchus morphogenesis / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- decreased somite size / MGI
- decreased midbrain size / MGI
- absent diencephalon / MGI
- decreased chondrocyte proliferation / MGI
- abnormal chondrocyte differentiation / MGI
- abnormal gallbladder size / MGI
- thin interparietal bone / MGI
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