Phenotypes Associated with This Genotype

Genotype
MGI:2166944

• Allelic Composition: Gli3^Xt-J/Gli3^Xt-J
• Genetic Background: involves: C3H * CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:4086 )

• animals that survive to birth die within 2 days after birth

prenatal lethality, incomplete penetrance ( J:4086 )

• many mutants die embryonically with a wide range of defects

craniofacial

abnormal cranium morphology ( J:38381 )

• external nasal processes are reduced

absent neurocranium ( J:38381 )

• skull vault fails to form

abnormal maxilla morphology ( J:38381 )

• the maxillary region is enlarged

abnormal craniofacial development ( J:4086 )

• enlarged maxillary arch

• reduced external nasal process

abnormal tooth development ( J:38381 )

• occurs in some mice

cleft palate ( J:38381 )

• occurs in some mice

abnormal ear position ( J:4086 )

• misplaced ears

skeleton

abnormal cranium morphology ( J:38381 )

• external nasal processes are reduced

absent neurocranium ( J:38381 )

• skull vault fails to form

abnormal tooth development ( J:38381 )

• occurs in some mice

abnormal maxilla morphology ( J:38381 )

• the maxillary region is enlarged

abnormal long bone morphology ( J:38381 )

increased diameter of humerus ( J:38381 )

• slight thickening of the humerus

short humerus ( J:38381 )

• slight shortening of the humerus

short radius ( J:38381 )

• slight shortening of the radius

increased diameter of radius ( J:38381 )

• slight thickening of the radius

short ulna ( J:38381 )

• slight shortening of the ulna

increased diameter of ulna ( J:38381 )

• slight thickening of the ulna

short tibia ( J:38381 )

• severe truncation of the tibia is observed

abnormal sternum morphology ( J:38381 )

• sternum is unfused

abnormal vertebral arch morphology ( J:38381 )

• C1 and C2 neural arches are fused

• neural arches of other cervical vertebrae are expanded and have irregular shapes

limbs/digits/tail

polydactyly ( J:4086 , J:38381 )

• present on all feet (J:4086)

• forelimb exhibits severe polydactyly (7-8 digits) and hindlimb exhibits milder polydactyly (6 digits) (J:38381)

syndactyly ( J:4086 )

• present on all feet

increased diameter of humerus ( J:38381 )

• slight thickening of the humerus

short humerus ( J:38381 )

• slight shortening of the humerus

short radius ( J:38381 )

• slight shortening of the radius

increased diameter of radius ( J:38381 )

• slight thickening of the radius

short ulna ( J:38381 )

• slight shortening of the ulna

increased diameter of ulna ( J:38381 )

• slight thickening of the ulna

short tibia ( J:38381 )

• severe truncation of the tibia is observed

abnormal embryonic autopod plate morphology ( J:4086 )

• at E12, mutant embryos show a widening in the preaxial and postaxial areas of the footplates, resulting in a paddle-shaped foot with polydactyly

nervous system

incomplete rostral neuropore closure ( J:4086 )

• neural tube closure is largely normal, although an opening around the midbrain region is seen

abnormal brain morphology ( J:4086 )

• gross malformations of the brain

exencephaly ( J:4086 )

• midbrain exencephaly

hearing/vestibular/ear

abnormal ear position ( J:4086 )

• misplaced ears

homeostasis/metabolism

edema ( J:4086 )

vision/eye

abnormal eye development ( J:4086 )

• poorly developed eyes

digestive/alimentary system

cleft palate ( J:38381 )

• occurs in some mice

embryo

incomplete rostral neuropore closure ( J:4086 )

• neural tube closure is largely normal, although an opening around the midbrain region is seen

integument

abnormal vibrissa morphology ( J:4086 )

• abnormal patterns of mystacial and supra-orbital hair

abnormal vibrissa number ( J:4086 )

• abnormal number of mystacial and supra-orbital hair

growth/size/body

abnormal tooth development ( J:38381 )

• occurs in some mice

cleft palate ( J:38381 )

• occurs in some mice

abnormal ear position ( J:4086 )

• misplaced ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Greig cephalopolysyndactyly syndrome		DOID:14761	OMIM:175700	J:4086