- abnormal inner ear vestibule morphology / MGI
- abnormal otic capsule morphology / MGI
- delayed bone ossification / MGI
- abnormal neurocranium morphology / MGI
- abnormal basioccipital bone morphology / MGI
- large anterior fontanelle / MGI
- short mandible / MGI
- short maxilla / MGI
- abnormal cell proliferation / MGI
- absent palatine bone horizontal plate / MGI
- abnormal cranium morphology / MGI
- short snout / MGI
- exencephaly / MGI
- distended abdomen / MGI
- hypoactivity / MGI
- abnormal suckling behavior / MGI
- respiratory distress / MGI
- abnormal thyroid cartilage morphology / MGI
- abnormal semicircular canal morphology / MGI
- abnormal hyoid bone morphology / MGI
- decreased lateral semicircular canal size / MGI
- absent posterior semicircular canal / MGI
- absent superior semicircular canal / MGI
- abnormal alisphenoid bone morphology / MGI
- ectopic cartilage / MGI
- abnormal craniofacial development / MGI
- absent stapes / MGI
- abnormal crista ampullaris morphology / MGI
- abnormal crista ampullaris neuroepithelium morphology / MGI
- abnormal pterygoid bone morphology / MGI
- small nasal bone / MGI
- short nasal bone / MGI
- absent mandibular coronoid process / MGI
- abnormal Meckel's cartilage morphology / MGI
- decreased tympanic ring size / MGI
- abnormal styloid process morphology / MGI
- abnormal bone ossification / MGI
- abnormal gonial bone morphology / MGI
- abnormal osteoblast differentiation / MGI
- meteorism / MGI
- absent gastric milk in neonates / MGI
- cleft secondary palate / MGI
- decreased maxillary shelf size / MGI
- abnormal hyoid bone greater horn morphology / MGI
- abnormal hyoid bone lesser horn morphology / MGI
- delayed cranial suture closure / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal head development / MGI
- short Meckel's cartilage / MGI
- ectopic cranial bone / MGI
- wide cranial sutures / MGI
- Wormian bones / MGI
- short styloid process / MGI
- abnormal cochlea morphology / MGI
- absent semicircular canals / MGI
- decreased cochlear coiling / MGI
- otic vesicle hypoplasia / MGI
- abnormal vestibular saccular macula morphology / MGI
- abnormal utricular macula morphology / MGI
- enlarged utricle / MGI
- abnormal vestibular saccule morphology / MGI
- short endolymphatic duct / MGI
STOCK Dlx5tm1Levi/Cnrm
Status | Available to order |
EMMA ID | EM:05637 |
Citation information | RRID:IMSR_EM:05637 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 | STOCK Dlx5tm1Levi/Cnrm |
Alternative name | Dlx5-LacZ |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Dlx5tm1Levi |
Gene/Transgene symbol | Dlx5 |
Information from provider
Provider | Antonio Simeone |
Provider affiliation | Ceinge Biotecnologie Avanzate |
Genetic information | Dlx5 is replaced with LacZ gene by homologous recombination. |
Phenotypic information | Homozygous mutants die shortly after birth with a swollen abdomen. They present a complex phenotype characterised by craniofacial abnormalities affecting derivatives of the first four branchial arches, severe malformations of the vestibular organ, a delayed ossification of the roof of the skull and abnormal osteogenesis. |
Breeding history | Targeted mutation was introduced in HM-1 ES cells. Mice were always maintained in a mixed C57BL/6 and DBA/2 genetic background. |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
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
- Isolated split hand-split foot malformation / Orphanet_2440
- Split hand-split foot-deafness syndrome / Orphanet_71271
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- abnormal malleus morphology / MGI
- abnormal cochlea morphology / MGI
- abnormal inner ear vestibule morphology / MGI
- absent semicircular canals / MGI
- abnormal otic capsule morphology / MGI
- absent endolymphatic duct / MGI
- abnormal middle ear morphology / MGI
- delayed bone ossification / MGI
- abnormal neurocranium morphology / MGI
- abnormal interparietal bone morphology / MGI
- abnormal basioccipital bone morphology / MGI
- large anterior fontanelle / MGI
- short mandible / MGI
- short premaxilla / MGI
- short maxilla / MGI
- abnormal vomer bone morphology / MGI
- abnormal nasal bone morphology / MGI
- abnormal basisphenoid bone morphology / MGI
- abnormal frontal bone morphology / MGI
- abnormal parietal bone morphology / MGI
- abnormal rib morphology / MGI
- abnormal cell proliferation / MGI
- absent palatine bone horizontal plate / MGI
- abnormal cranium morphology / MGI
- abnormal snout morphology / MGI
- short snout / MGI
- abnormal mouth morphology / MGI
- abnormal jaw morphology / MGI
- abnormal maxilla morphology / MGI
- abnormal mandible morphology / MGI
- abnormal hindlimb morphology / MGI
- syndactyly / MGI
- abnormal olfactory bulb morphology / MGI
- abnormal brain development / MGI
- exencephaly / MGI
- open neural tube / MGI
- abnormal sensory neuron innervation pattern / MGI
- small trigeminal ganglion / MGI
- decreased body size / MGI
- distended abdomen / MGI
- hypoactivity / MGI
- abnormal suckling behavior / MGI
- anencephaly / MGI
- respiratory distress / MGI
- perinatal lethality / MGI
- abnormal vibrissa morphology / MGI
- abnormal digit morphology / MGI
- abnormal craniofacial bone morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal outer ear morphology / MGI
- abnormal nasal mucosa morphology / MGI
- abnormal larynx morphology / MGI
- abnormal thyroid cartilage morphology / MGI
- abnormal semicircular canal morphology / MGI
- brachydactyly / MGI
- abnormal sexual interaction / MGI
- micrognathia / MGI
- abnormal molar morphology / MGI
- small olfactory bulb / MGI
- abnormal tooth mineralization / MGI
- abnormal premaxilla morphology / MGI
- abnormal pharyngeal arch morphology / MGI
- abnormal hyoid bone morphology / MGI
- abnormal metatarsal bone morphology / MGI
- decreased cochlear coiling / MGI
- decreased lateral semicircular canal size / MGI
- absent posterior semicircular canal / MGI
- absent superior semicircular canal / MGI
- abnormal scala vestibuli morphology / MGI
- abnormal alisphenoid bone morphology / MGI
- abnormal GABAergic neuron morphology / MGI
- abnormal axon extension / MGI
- abnormal palate morphology / MGI
- ectopic cartilage / MGI
- abnormal molar crown morphology / MGI
- abnormal craniofacial development / MGI
- abnormal tongue muscle morphology / MGI
- absent stapes / MGI
- abnormal pterygoid muscle morphology / MGI
- abnormal crista ampullaris morphology / MGI
- abnormal rostral migratory stream morphology / MGI
- otic vesicle hypoplasia / MGI
- abnormal vestibular saccular macula morphology / MGI
- abnormal utricular macula morphology / MGI
- enlarged utricle / MGI
- small interparietal bone / MGI
- abnormal crista ampullaris neuroepithelium morphology / MGI
- small parietal bone / MGI
- abnormal temporal bone squamous part morphology / MGI
- absent Meckel's cartilage / MGI
- small supraoccipital bone / MGI
- abnormal pterygoid process morphology / MGI
- abnormal pterygoid bone morphology / MGI
- small nasal bone / MGI
- short nasal bone / MGI
- turbinate hypoplasia / MGI
- small maxilla / MGI
- abnormal mandibular coronoid process morphology / MGI
- abnormal mandibular condyloid process morphology / MGI
- abnormal mandibular angle morphology / MGI
- abnormal stapedial artery morphology / MGI
- abnormal nasal capsule morphology / MGI
- absent mandibular coronoid process / MGI
- abnormal middle ear ossicle morphology / MGI
- ectrodactyly / MGI
- abnormal olfactory nerve morphology / MGI
- abnormal occipital bone morphology / MGI
- abnormal zygomatic bone morphology / MGI
- abnormal lacrimal bone morphology / MGI
- abnormal viscerocranium morphology / MGI
- abnormal phalanx morphology / MGI
- abnormal incisor morphology / MGI
- abnormal Meckel's cartilage morphology / MGI
- decreased tympanic ring size / MGI
- abnormal external auditory canal morphology / MGI
- abnormal vestibular saccule morphology / MGI
- otic capsule hypoplasia / MGI
- abnormal nasal pit morphology / MGI
- abnormal first pharyngeal arch morphology / MGI
- abnormal styloid process morphology / MGI
- short endolymphatic duct / MGI
- abnormal bone ossification / MGI
- small malleus processus brevis / MGI
- abnormal gonial bone morphology / MGI
- abnormal osteoblast differentiation / MGI
- abnormal olfactory epithelium morphology / MGI
- meteorism / MGI
- absent gastric milk in neonates / MGI
- cleft secondary palate / MGI
- cleft primary palate / MGI
- decreased maxillary shelf size / MGI
- abnormal frontonasal prominence morphology / MGI
- abnormal lateral nasal prominence morphology / MGI
- abnormal hyoid bone greater horn morphology / MGI
- abnormal hyoid bone lesser horn morphology / MGI
- abnormal stylohyoid ligament morphology / MGI
- abnormal olfactory bulb granule cell morphology / MGI
- abnormal olfactory bulb periglomerular cell morphology / MGI
- abnormal mitral cell morphology / MGI
- abnormal basicranium morphology / MGI
- delayed cranial suture closure / MGI
- abnormal mandibular prominence morphology / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- abnormal head development / MGI
- absent vomeronasal organ / MGI
- small vomeronasal organ / MGI
- short Meckel's cartilage / MGI
- absent olfactory epithelium / MGI
- ectopic cranial bone / MGI
- decreased bone mineralization / MGI
- fused pharyngeal arches / MGI
- wide cranial sutures / MGI
- Wormian bones / MGI
- small lacrimal bone / MGI
- short lower incisors / MGI
- short upper incisors / MGI
- abnormal mylohyoid muscle morphology / MGI
- abnormal epitympanic recess morphology / MGI
- deviated nasal septum / MGI
- short nasal septum / MGI
- abnormal intrinsic tongue muscle morphology / MGI
- frontonasal prominence hypoplasia / MGI
- small vomer bone / MGI
- lower jaw to upper jaw transformation / MGI
- abnormal tegmen tympani morphology / MGI
- short styloid process / MGI
- small presphenoid bone / MGI
- abnormal outer ear cartilage morphology / MGI
- abnormal superior horn of thyroid cartilage morphology / MGI
Literature references
- Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5.;Acampora D, Merlo G R, Paleari L, Zerega B, Postiglione M P, Mantero S, Bober E, Barbieri O, Simeone A, Levi G, ;1999;Development (Cambridge, England);126;3795-809; 10433909
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