Phenotypes Associated with This Genotype

Genotype
MGI:3629787

• Allelic Composition: Gli3^Xt-J/Gli3^Xt-J
• Genetic Background: B6.C3-Gli3^Xt-J/J

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:42454 )

• Background Sensitivity: homozygotes seldom survive beyond E14.5 on this background

endocrine/exocrine glands

abnormal mammary gland bud morphology ( J:109476 )

♀ • at E13.5, embryos lack mammary bud 3

abnormal mammary line morphology ( J:109476 )

♀ • mammary line formation is impaired

respiratory system

abnormal left lung morphology ( J:42454 )

• reduced width but not length in left lobe

abnormal right lung accessory lobe morphology ( J:42454 )

• accessory lobe reduced in both width and length

abnormal right lung caudal lobe morphology ( J:42454 )

• reduced width but not length in right caudal lobe

abnormal right lung middle lobe morphology ( J:42454 )

• right medial lobe of lung sometimes varies in shape

small lung ( J:42454 )

• lungs small in all homozygotes from E11.5 onward

decreased lung weight ( J:42454 )

• about 35% less than weights of littermate controls

embryo

increased embryo size ( J:42454 )

• consistently larger in size than control littermates

abnormal embryonic tissue morphology ( J:109476 )

• stratum intermedium is absent in mutants at E11.5

homeostasis/metabolism

edema ( J:42454 )

• spinal edema as early as E13.5 and in all homozygotes at E14.5

growth/size/body

increased embryo size ( J:42454 )

• consistently larger in size than control littermates

craniofacial

abnormal lambdoid suture morphology ( J:163175 )

• synostosis of the lambdoid sutures

• the sutural mesenchyme between the parietal and interparietal bones is thicker at E16.5, just before the occurrence of synostosis

• marker analysis indicates ectopic osteoblast differentiation in lambdoid sutures

• cell proliferation in the lambdoid sutures is increased at E16.5

wide metopic suture ( J:163175 )

• interfrontal suture is initially widened

wide sagittal suture ( J:163175 )

• sagittal suture is initially widened

abnormal neurocranium morphology ( J:163175 )

• calvaria is domed shaped and rectangular with an acute angle between the frontal or nasal bones

nervous system

increased forebrain size ( J:163175 )

• interfrontal and sagittal sutures are initially widened resulting in an expanded forebrain

skeleton

abnormal lambdoid suture morphology ( J:163175 )

• synostosis of the lambdoid sutures

• the sutural mesenchyme between the parietal and interparietal bones is thicker at E16.5, just before the occurrence of synostosis

• marker analysis indicates ectopic osteoblast differentiation in lambdoid sutures

• cell proliferation in the lambdoid sutures is increased at E16.5

wide metopic suture ( J:163175 )

• interfrontal suture is initially widened

wide sagittal suture ( J:163175 )

• sagittal suture is initially widened

abnormal neurocranium morphology ( J:163175 )

• calvaria is domed shaped and rectangular with an acute angle between the frontal or nasal bones

premature lambdoid suture closure ( J:163175 )

• mutants exhibit bilateral premature fusion of the parietal and interparietal bones across the lambdoid sutures at E18.5; suture fuses between E16.5 and E18.5

integument

abnormal mammary gland bud morphology ( J:109476 )

♀ • at E13.5, embryos lack mammary bud 3

abnormal mammary line morphology ( J:109476 )

♀ • mammary line formation is impaired

abnormal epidermis stratum basale morphology ( J:109476 )

• in E12.5 embryos, cells of the stratum germinativum are cylindrical, slightly enlarged along the width of the mammary line and covered with periderm