Phenotypes Associated with This Genotype

Genotype
MGI:6151463

• Allelic Composition: Golgb1^m1Lanyu/Golgb1^m1Lanyu
• Genetic Background: A/J-Golgb1^m1Lanyu

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

craniofacial

craniofacial phenotype ( J:235669 )

N • normal palatal cell proliferation in mesenchyme and epithelium in E12.5-13.5 embryos; palatal shelves shape and size like controls up to E13.5

abnormal palate development ( J:235669 )

• smaller palatal shelves than controls after E13.5, with higher cellular density throughout anterior-posterior axis

• less Alcian Blue staining in palatal mesenchyme after E13.5

• reduced hyaluronan (HA) accumulation throughout anterior-posterior axis of palatal mesenchyme at E13.5

• reduced hyaluronan (HA) accumulation in hinge region and at nasal side of palatal mesenchyme at E13.5

palatal shelves fail to meet at midline ( J:235669 )

• un-fused palatal shelves in E15.5 and E16.5 embryos

decreased palatal shelf size ( J:235669 )

• smaller palatal shelves than controls after E13.5

cleft palate ( J:235669 )

• vertically oriented un-fused palatal shelves in E15.5 and E16.5 embryos

failure of palatal shelf elevation ( J:235669 )

• vertically oriented un-fused palatal shelves in E15.5 and E16.5 embryos

abnormal tongue position ( J:235669 )

• failure of tongue to descend to oral cavity floor in E14.5-16.5 embryos

digestive/alimentary system

abnormal palate development ( J:235669 )

• smaller palatal shelves than controls after E13.5, with higher cellular density throughout anterior-posterior axis

• less Alcian Blue staining in palatal mesenchyme after E13.5

• reduced hyaluronan (HA) accumulation throughout anterior-posterior axis of palatal mesenchyme at E13.5

• reduced hyaluronan (HA) accumulation in hinge region and at nasal side of palatal mesenchyme at E13.5

palatal shelves fail to meet at midline ( J:235669 )

• un-fused palatal shelves in E15.5 and E16.5 embryos

decreased palatal shelf size ( J:235669 )

• smaller palatal shelves than controls after E13.5

cleft palate ( J:235669 )

• vertically oriented un-fused palatal shelves in E15.5 and E16.5 embryos

failure of palatal shelf elevation ( J:235669 )

• vertically oriented un-fused palatal shelves in E15.5 and E16.5 embryos

abnormal tongue position ( J:235669 )

• failure of tongue to descend to oral cavity floor in E14.5-16.5 embryos

embryo

embryo phenotype ( J:235669 )

N • neural crest cell migration and differentiation from E9.5-12.5

growth/size/body

abnormal palate development ( J:235669 )

• smaller palatal shelves than controls after E13.5, with higher cellular density throughout anterior-posterior axis

• less Alcian Blue staining in palatal mesenchyme after E13.5

• reduced hyaluronan (HA) accumulation throughout anterior-posterior axis of palatal mesenchyme at E13.5

• reduced hyaluronan (HA) accumulation in hinge region and at nasal side of palatal mesenchyme at E13.5

palatal shelves fail to meet at midline ( J:235669 )

• un-fused palatal shelves in E15.5 and E16.5 embryos

decreased palatal shelf size ( J:235669 )

• smaller palatal shelves than controls after E13.5

cleft palate ( J:235669 )

• vertically oriented un-fused palatal shelves in E15.5 and E16.5 embryos

failure of palatal shelf elevation ( J:235669 )

• vertically oriented un-fused palatal shelves in E15.5 and E16.5 embryos

abnormal tongue position ( J:235669 )

• failure of tongue to descend to oral cavity floor in E14.5-16.5 embryos

homeostasis/metabolism

decreased hyaluronic acid level ( J:235669 )

• reduced hyaluronan (HA) accumulation throughout anterior-posterior axis of palatal mesenchyme at E13.5

• reduced HA accumulation in hinge region and at nasal side of palatal mesenchyme at E13.5

cellular

cellular phenotype ( J:235669 )

N • Golgi apparatus morphology is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:235669