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Phenotypes Associated with This Genotype
Genotype
MGI:3700824
Allelic
Composition
Gli3tm1Urt/Gli3tm1Urt
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3tm1Urt mutation (0 available); any Gli3 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die within 12-18 hours after birth

growth/size/body
• the two palate shelves are present but show a delayed mineralization
• embryos are retarded in development between E10.5 and E12.5, however at later time points, no differences in size are observed

embryo
• 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
• the two palate shelves are present but show a delayed mineralization
• imperforate anus
• exhibit dilation of parts of the intestine
• the colon terminates in a blind dilation that is not fused to the surface ectoderm at E15.5
• epiglottis is absent at E15.5

skeleton
• 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
• newborns have a slightly enlarged skull
• the two palate shelves are present but show a delayed mineralization
• most severe bending is in the tibia
• at E16.5, the tibia is significantly shorter than in wild-type controls
• all mutants show different degrees of bilateral and anterior bending of long bones
• exhibit a laryngeal cleft resulting in an abnormal connection between the esophagus and the larynx
• epiglottis is absent at E15.5
• newborns show a curvature of the spine
• advanced mineralization in the sclerotome-derived vertebrae but not throughout the vertebral column
• a fusion of neighboring vertebrae in neonates is apparent
• 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
• at E16.5, forelimb autopods lack ossification

limbs/digits/tail
• at E16.5, limb phenotypes are significantly milder than those observed in Gli3tm3.1Blnw/Gli3tm3.1Blnw Tg(Prrx1-cre)1Cjt/0 mice
• 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
• exhibit soft tissue syndactyly at E14.5
• at E16.5, forelimb autopods exhibit an additional fused digit
• however, both forelimb and hindlimb digit patterning are largely normal
• exhibit a reduced number of apoptotic cells in the interdigital web
• most severe bending is in the tibia
• at E16.5, the tibia is significantly shorter than in wild-type controls
• all mutants show different degrees of bilateral and anterior bending of long bones
• exhibit a proximo-distal shortening of the fore- and hindlimbs as early as E14.5

endocrine/exocrine glands

renal/urinary system
• remaining kidney exhibits abnormalities
• absence of one kidney combined with phenotypic abnormalities in the remaining kidney

respiratory system
• exhibit a laryngeal cleft resulting in an abnormal connection between the esophagus and the larynx
• epiglottis is absent at E15.5

craniofacial
• 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
• newborns have a slightly enlarged skull
• the two palate shelves are present but show a delayed mineralization

integument
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory