Phenotypes Associated with This Genotype

Genotype
MGI:5811453

• Allelic Composition: Gnptab^tm1Dkji/Gnptab^tm1Dkji
• Genetic Background: involves: 129 * C57BL/6

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

growth/size/body

coarse facial features ( J:231531 )

• coarse facial shape

decreased body size ( J:231531 )

• smaller stature and size

decreased body weight ( J:231531 )

decreased body length ( J:231531 )

postnatal growth retardation ( J:231531 )

• severe

skeleton

kyphosis ( J:231531 )

decreased bone mineral content ( J:231531 )

• bone mineral content is decreased in 10 week old mice

• mice treated with a recombinant adeno-associated viral vector expressing GNPTAB cDNA show improved bone mineral content

decreased bone mineral density ( J:231531 )

• bone mineral density is deceased in 10 week old mice

• mice treated with a recombinant adeno-associated viral vector expressing GNPTAB cDNA show improved bone mineral density

decreased bone mass ( J:231531 )

abnormal chondrocyte morphology ( J:231531 )

• cytoplasm of femoral chondrocytes is distended by small amounts of granular material and contains an abundance of microvacuoles

cellular

abnormal cell morphology ( J:231531 )

• cytoplasm of cultured fibroblasts contain numerous phase-dense inclusions, indicating intracellular accumulation of inclusion bodies

abnormal lysosome morphology ( J:231531 )

• accumulation of autolysosomes in the salivary gland

increased lysosomal enzyme secretion ( J:231531 )

• fibroblasts show increased levels of several lysosomal enzymes

craniofacial

coarse facial features ( J:231531 )

• coarse facial shape

digestive/alimentary system

abnormal salivary gland morphology ( J:231531 )

• overall architecture of the submandibular salivary gland is disrupted

• mucous-type secretory cells of the salivary gland are packed with large membrane-bound vacuoles containing heterogeneous material

endocrine/exocrine glands

abnormal salivary gland morphology ( J:231531 )

• overall architecture of the submandibular salivary gland is disrupted

• mucous-type secretory cells of the salivary gland are packed with large membrane-bound vacuoles containing heterogeneous material

immune system

increased interleukin-6 secretion ( J:231531 )

• IL-6 production and secretion in articular chondrocytes is increased

• mice treated with a recombinant adeno-associated viral vector expressing GNPTAB cDNA show reduced IL-6 production in articular cartilage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucolipidosis II alpha/beta		DOID:0080070	OMIM:252500	J:231531