Phenotypes Associated with This Genotype

Genotype
MGI:3700824

• Allelic Composition: Gli3^tm1Urt/Gli3^tm1Urt
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:76496 )

• homozygotes die within 12-18 hours after birth

growth/size/body

abnormal palatine bone horizontal plate morphology ( J:76496 )

• the two palate shelves are present but show a delayed mineralization

embryonic growth retardation ( J:76496 )

• embryos are retarded in development between E10.5 and E12.5, however at later time points, no differences in size are observed

embryo

embryonic growth retardation ( J:76496 )

• embryos are retarded in development between E10.5 and E12.5, however at later time points, no differences in size are observed

digestive/alimentary system

abnormal palatine bone horizontal plate morphology ( J:76496 )

• the two palate shelves are present but show a delayed mineralization

anal atresia ( J:76496 )

• imperforate anus

abnormal intestine morphology ( J:76496 )

• exhibit dilation of parts of the intestine

abnormal colon morphology ( J:76496 )

• the colon terminates in a blind dilation that is not fused to the surface ectoderm at E15.5

absent epiglottis ( J:76496 )

• epiglottis is absent at E15.5

skeleton

abnormal basisphenoid bone morphology ( J:76496 )

• the posterior basisphenoid bone, which is the hypophyseal cartilage, surrounding the pituitary, is misshapen and reduced in size, and a hole in its center is evident

basisphenoid bone foramen ( J:76496 )

small basisphenoid bone ( J:76496 )

enlarged cranium ( J:76496 )

• newborns have a slightly enlarged skull

abnormal palatine bone horizontal plate morphology ( J:76496 )

• the two palate shelves are present but show a delayed mineralization

bowed radius ( J:76496 )

bowed ulna ( J:76496 )

bowed tibia ( J:76496 )

• most severe bending is in the tibia

short tibia ( J:199480 )

• at E16.5, the tibia is significantly shorter than in wild-type controls

camptomelia ( J:76496 )

• all mutants show different degrees of bilateral and anterior bending of long bones

abnormal laryngeal cartilage morphology ( J:76496 )

• exhibit a laryngeal cleft resulting in an abnormal connection between the esophagus and the larynx

absent epiglottis ( J:76496 )

• epiglottis is absent at E15.5

abnormal spine curvature ( J:76496 )

• newborns show a curvature of the spine

abnormal vertebrae morphology ( J:76496 )

• advanced mineralization in the sclerotome-derived vertebrae but not throughout the vertebral column

vertebral fusion ( J:76496 )

• a fusion of neighboring vertebrae in neonates is apparent

abnormal bone mineralization ( J:76496 )

• delay in mineralization of the two palate shelves and in the lateral mesoderm-derived skeletal elements of the autopod

• advanced mineralization in the sclerotome-derived vertebrae but not throughout the vertebral column

failure of endochondral bone ossification ( J:199480 )

• at E16.5, forelimb autopods lack ossification

limbs/digits/tail

abnormal limb morphology ( J:199480 )

• at E16.5, limb phenotypes are significantly milder than those observed in Gli3^tm3.1Blnw/Gli3^tm3.1Blnw Tg(Prrx1-cre)1Cjt/0 mice

polydactyly ( J:76496 )

• exhibit a central/insertional polydactyly in the autopod that is seen as early as E14.5; position of the additional digit varies, in about half, the extra digit is located in the same plane as the remaining digits, whereas in the other half, it is localized ventral of digit 3

syndactyly ( J:76496 )

• exhibit soft tissue syndactyly at E14.5

polysyndactyly ( J:199480 )

• at E16.5, forelimb autopods exhibit an additional fused digit

• however, both forelimb and hindlimb digit patterning are largely normal

interdigital webbing ( J:76496 )

• exhibit a reduced number of apoptotic cells in the interdigital web

bowed radius ( J:76496 )

bowed ulna ( J:76496 )

bowed tibia ( J:76496 )

• most severe bending is in the tibia

short tibia ( J:199480 )

• at E16.5, the tibia is significantly shorter than in wild-type controls

camptomelia ( J:76496 )

• all mutants show different degrees of bilateral and anterior bending of long bones

short limbs ( J:76496 )

• exhibit a proximo-distal shortening of the fore- and hindlimbs as early as E14.5

endocrine/exocrine glands

absent adrenal gland ( J:76496 )

renal/urinary system

abnormal kidney morphology ( J:76496 )

• remaining kidney exhibits abnormalities

single kidney ( J:76496 )

• absence of one kidney combined with phenotypic abnormalities in the remaining kidney

respiratory system

abnormal laryngeal cartilage morphology ( J:76496 )

• exhibit a laryngeal cleft resulting in an abnormal connection between the esophagus and the larynx

absent epiglottis ( J:76496 )

• epiglottis is absent at E15.5

craniofacial

abnormal basisphenoid bone morphology ( J:76496 )

• the posterior basisphenoid bone, which is the hypophyseal cartilage, surrounding the pituitary, is misshapen and reduced in size, and a hole in its center is evident

basisphenoid bone foramen ( J:76496 )

small basisphenoid bone ( J:76496 )

enlarged cranium ( J:76496 )

• newborns have a slightly enlarged skull

abnormal palatine bone horizontal plate morphology ( J:76496 )

• the two palate shelves are present but show a delayed mineralization

integument

abnormal nail morphology ( J:76496 )

• nails are dysplastic at E14.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pallister-Hall syndrome		DOID:9248	OMIM:146510	J:76496