Phenotypes Associated with This Genotype

Genotype
MGI:3513818

• Allelic Composition: Nrtn^tm1Jmi/Nrtn^tm1Jmi
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

behavior/neurological

abnormal blinking ( J:85753 )

• reduced blink reflex due to abnormal corneal sensation

endocrine/exocrine glands

abnormal prostate gland epithelium morphology ( J:89350 )

♂ • decreased mucosal thickening and folding in the secretory epithelium of the ventral prostate

abnormal lacrimal gland physiology ( J:53261 )

• crusting drainage

immune system

increased incidence of corneal inflammation ( J:85753 )

• Il-1beta levels significantly increased by 4 months of age

keratoconjunctivitis sicca ( J:85753 )

• mice display phenotypic changes and ocular surface inflammation that mimic human keratoconjunctivitis sicca

muscle

intestinal hypoperistalsis ( J:82456 )

• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

impaired smooth muscle contractility ( J:53261 )

• muscle strips from the gut with reduced spontaneous contractile activity

• contractile strength of stimulated gut muscles considerably reduced

reproductive system

abnormal prostate gland epithelium morphology ( J:89350 )

♂ • decreased mucosal thickening and folding in the secretory epithelium of the ventral prostate

vision/eye

abnormal eye morphology ( J:53261 )

abnormal conjunctiva goblet cell morphology ( J:85753 )

• significantly reduced number of globlet cells in the bulbar and tarsal conjunctiva

abnormal cornea epithelium morphology ( J:85753 )

• leukocytes found in epithelium

increased cornea epithelium thickness ( J:85753 )

• thickened at 10 weeks from 5 layers to 8 with a basal cell phenotype

enophthalmos ( J:53261 )

• eyes set more deeply in sockets

blepharoptosis ( J:53261 )

• drooping, thickened eyelids by 2 months of age

thick eyelids ( J:53261 )

• eyelid thickening in most mice by 2 months of age

abnormal eye physiology ( J:85753 )

• permeability of corneal epithelium increased

abnormal lacrimal gland physiology ( J:53261 )

• crusting drainage

increased incidence of corneal inflammation ( J:85753 )

• Il-1beta levels significantly increased by 4 months of age

keratoconjunctivitis sicca ( J:85753 )

• mice display phenotypic changes and ocular surface inflammation that mimic human keratoconjunctivitis sicca

decreased tear production ( J:85753 )

• reduced aqueous tear production becoming significant at 8 weeks

• significantly delayed tear fluorescein clearance at >8 weeks

dry eyes ( J:85753 )

nervous system

abnormal enteric neuron morphology ( J:53261 , J:82456 )

• decreased small fiber density in the small intestine and colon (by 40% in duodenum) (J:53261)

• 35% fewer small bowel submucosal neurons, however the number of colonic submucosal neurons and colon and small bowel myenteric neurons is normal (J:82456)

• myenteric neuron size is reduced by 29% in the small bowel and 33% in the colon, however submucosal neuron size is normal (J:82456)

• density of acetylcholinesterase-stained neuronal fibers in the myenteric plexus is reduced by 32% in the small bowel and 22% in the colon (J:82456)

abnormal ciliary ganglion morphology ( J:53261 )

• reduced number of ciliary ganglion neurons but pupil function is normal

abnormal otic ganglion morphology ( J:53261 )

• otic ganglion cell size reduced but numbers of cells is normal

abnormal parasympathetic neuron morphology ( J:53261 )

abnormal parasympathetic postganglionic fiber morphology ( J:53261 , J:89350 )

• severe reduction or lack of innervation to the lacrimal gland (J:53261)

• submandibular gland neurons smaller and fibers thinner (J:53261)

• parasympathetic innervation of glandular tissue in reproductive organs lost (J:89350)

abnormal lacrimal gland innervation pattern ( J:53261 )

• nerve fibers are almost completely absent in the lacrimal gland of adult mice, indicating reduced parasympathetic innervation to the lacrimal gland

abnormal neurotransmitter secretion ( J:82456 )

• 70-95% reduction in substance P and 35-70% reduction in VIP release

digestive/alimentary system

intestinal hypoperistalsis ( J:82456 )

• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation