- 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 |
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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