Phenotypes Associated with This Genotype

Genotype
MGI:4456351

• Allelic Composition: Gnptab^{Gt(OST97730)Lex}/Gnptab^{Gt(OST97730)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

growth/size/body

abnormal lateral nasal gland morphology ( J:127156 )

• widespread vacuolization in the dorsal portion of Steno glands

• the ventral portion of the Steno glands is minimally affected

decreased lean body mass ( J:127156 )

decreased body weight ( J:127156 )

decreased body length ( J:127156 )

endocrine/exocrine glands

abnormal exocrine gland morphology ( J:127156 )

• changes, such as abundant vacuoles, in secretory cells of several exocrine glands, including the pancreas, parotid salivary glands, submandibular salivary glands, Steno (lateral nasal) glands, bulbourethral glands, gastric glands, and pancreatic acinar cells

abnormal lateral nasal gland morphology ( J:127156 )

• widespread vacuolization in the dorsal portion of Steno glands

• the ventral portion of the Steno glands is minimally affected

abnormal exocrine pancreas morphology ( J:127156 )

• pancreatic lesions that are characterized by disorganization of tissue architecture; variably sized cells are tightly packed in clusters and are distended by large vacuoles containing amphophilic granular inclusions

abnormal pancreatic acinar cell zymogen granule morphology ( J:127156 )

• decrease in size and number of zymogen granules at the apex of acinar cells

abnormal parotid gland acinus morphology ( J:127156 )

• in parotid salivary glands, acinar cells are distended by large vacuoles that frequently contain small amounts of ill-defined amphophilic-staining tissue

abnormal submandibular gland morphology ( J:127156 )

• acinar cells of the submandibular salivary gland are distended by large vacuoles and inclusions

abnormal bulbourethral gland morphology ( J:127156 )

♂ • widespread vacuolization in the bulbourethral glands

vision/eye

abnormal retina photoreceptor layer morphology ( J:127156 )

• increase in apoptotic cells in the photoreceptor layer is seen at 1 month of age

retina photoreceptor degeneration ( J:127156 )

• photoreceptor degeneration that progresses slowly, such that at 10 months of age, degeneration is complete and atrophy of the retinal pigment epithelium is seen

retina degeneration ( J:127156 )

• retinal degeneration seen by 15 weeks of age

abnormal eye electrophysiology ( J:127156 )

• ERG analysis indicates that all photoreceptor function is ablated by 5 months of age

homeostasis/metabolism

abnormal circulating enzyme level ( J:127156 )

• 6.7- to 13.9-fold increase in levels of lysosomal enzymes

• however, normal levels of lysosomal enzymes in eye lysates

skeleton

abnormal chondrocyte morphology ( J:127156 )

• tracheal chondrocytes are hypertrophic and completely fill their enlarged lacunae

• cytoplasm of hypertrophic chondrocytes is distended by scanty amounts of finely granular amphophilic material and abundant microvacuoles instead of a single large, clear vacuole

nervous system

retina photoreceptor degeneration ( J:127156 )

• photoreceptor degeneration that progresses slowly, such that at 10 months of age, degeneration is complete and atrophy of the retinal pigment epithelium is seen

reproductive system

abnormal bulbourethral gland morphology ( J:127156 )

♂ • widespread vacuolization in the bulbourethral glands

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:127156 )

• pancreatic lesions that are characterized by disorganization of tissue architecture; variably sized cells are tightly packed in clusters and are distended by large vacuoles containing amphophilic granular inclusions

abnormal pancreatic acinar cell zymogen granule morphology ( J:127156 )

• decrease in size and number of zymogen granules at the apex of acinar cells

abnormal parotid gland acinus morphology ( J:127156 )

• in parotid salivary glands, acinar cells are distended by large vacuoles that frequently contain small amounts of ill-defined amphophilic-staining tissue

abnormal submandibular gland morphology ( J:127156 )

• acinar cells of the submandibular salivary gland are distended by large vacuoles and inclusions

craniofacial

abnormal lateral nasal gland morphology ( J:127156 )

• widespread vacuolization in the dorsal portion of Steno glands

• the ventral portion of the Steno glands is minimally affected

respiratory system

abnormal lateral nasal gland morphology ( J:127156 )

• widespread vacuolization in the dorsal portion of Steno glands

• the ventral portion of the Steno glands is minimally affected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucolipidosis II alpha/beta		DOID:0080070	OMIM:252500	J:127156