Phenotypes Associated with This Genotype

Genotype
MGI:3619532

• Allelic Composition: Muc19^sld/Muc19^sld
• Genetic Background: NFS/N-Muc19^sld

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

Sublingual gland abnormalities in Muc19^tm2Culp/Muc19^tm2Culp, and Muc19^sld/Muc19^sld adults

digestive/alimentary system

abnormal sublingual gland morphology ( J:9277 , J:85119 , J:199625 )

• acinar cell differentiation is severely inhibited with almost no mucus rich cells present at birth and the number of mucus rich cells increases with age until they total about 30% of the total acinar cell population (J:9277)

• abnormal acinar cells have irregular secretion granules, irregularly dilated rough endoplasmic reticulum, and branched cisternae (J:9277)

• however, the parotid and submandibular salivary glands appear normal (J:9277)

• at 8 weeks of age submandibular gland mass normalized to body weight is increased by about 25% compared to controls, no difference in mass is seen at 3 days of age (J:85119)

• at 3 days of age the acini have characteristics of exocrine cells but have few, small, electron-dense granules, large basally oriented nuclei, tight junctions, and accumulations of glycogen (J:85119)

• however, serous demilune cell morphology is normal (J:85119)

• at 8 weeks, mucous cells contain small moderately electron-dense apical granules and cytoplasm that is much less organized with a large round nucleus surrounded by loosely arranged RER and associated Golgi than in wild-type cells (J:199625)

immune system

increased susceptibility to autoimmune disorder ( J:20364 , J:216958 )

• in mice in which the thymus was removed at 3 days of age, severe, progressive inflammatory lesions develop in the salivary and lacrimal glands beginning at 4 weeks of age (J:20364)

♀ • mice that underwent thymectomy and were treated with an aromatase inhibitor daily from 4 to 8 weeks of age exhibit more severe autoimmune lesions in the lacrimal and salivary glands than controls and increases in serum levels of anti-alpha-fodrin and anti-ssDNA antibodies (J:216958)

endocrine/exocrine glands

abnormal sublingual gland morphology ( J:9277 , J:85119 , J:199625 )

• acinar cell differentiation is severely inhibited with almost no mucus rich cells present at birth and the number of mucus rich cells increases with age until they total about 30% of the total acinar cell population (J:9277)

• abnormal acinar cells have irregular secretion granules, irregularly dilated rough endoplasmic reticulum, and branched cisternae (J:9277)

• however, the parotid and submandibular salivary glands appear normal (J:9277)

• at 8 weeks of age submandibular gland mass normalized to body weight is increased by about 25% compared to controls, no difference in mass is seen at 3 days of age (J:85119)

• at 3 days of age the acini have characteristics of exocrine cells but have few, small, electron-dense granules, large basally oriented nuclei, tight junctions, and accumulations of glycogen (J:85119)

• however, serous demilune cell morphology is normal (J:85119)

• at 8 weeks, mucous cells contain small moderately electron-dense apical granules and cytoplasm that is much less organized with a large round nucleus surrounded by loosely arranged RER and associated Golgi than in wild-type cells (J:199625)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:20364 , J:62145 , J:106272 , J:216958