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Phenotypes Associated with This Genotype
Genotype
MGI:3530497
Allelic
Composition
Nfibtm1Rmg/Nfibtm1Rmg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfibtm1Rmg mutation (1 available); any Nfib mutation (91 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• observed minor surface indentations in E15.5 lungs and deep clefts or ruffles at E18.5
• higher levels of proliferation in E18.5 lung as detected by a fourfold increase in PCNA transcripts and a substantial increase in the total DNA in the lung but no differences in lung size
• E17.5 lungs were severely defective in maturation and resembled the less-mature E15.5 wildtype lungs however morphology at E15.5 was normal indicating that lung development is arrested between E15.5 and E16.5
• E17.5 lungs lacked saccules

nervous system
• a reduction in the entire hippocampal primordium at E15.5 and displayed more severe disruptions in the formation of the hippocampus, with the entire CA3 region absent or severely reduced, than on a mixed Black Swiss/129P2 background
• cerebellum appears unfoliated at E18.5
• enlarged ventricles
• exhibit agenesis of the corpus callosum
• complete absence of GFAP labeling in the indusium griseum and the glial wedge and a reduction in the midline zipper glia, indicating a loss or reduction of glial populations in these areas
• the basilar pons was virtually absent in the hindbrain, with only a small cap of cells remaining at E16.5 to E18.5 and the rest of the hindbrain appeared normal
• the entire CA3 region is absent or severely reduced
• at E17.5 the dentate gyrus was absent
• greatly reduced fimbria in E17.5 hippocampus
• at E18, axon formation by cerebrellar granule neurons (GCNs) is altered
• complete absence of GFAP labeling in the indusium griseum and the glial wedge and a reduction in the midline zipper glia, indicating a loss or reduction of glial populations in the midline

craniofacial
• fetuses exhibit delayed cranial bone growth but without evidence of premature suture fusion

growth/size/body
• fetuses exhibit reduced overall size

digestive/alimentary system
• at E18.5, mutant submandibular glands and sublingual glands are hard to distinguish unlike in wild-type controls
• at E18.5, mutant submandibular glands have completely branched and canaliculized ducts but show signs of underdeveloped lobules that lack tubule secretory cells and ducts are connected directly with terminal buds (i.e. poor lumen formation)
• at E18.5, mutant inner tubule cells fail to differentiate and the overall morphology of terminal buds is similar to that of wild-type controls at E16.5
• at E16.5, mutant inner duct tubule cells are polygonal in shape and disorganized whereas wild-type controls are cuboidal and aligned in a row
• at E18.5, mutant proacinar cells are located at the distal end of the bud and lack secretory granules
• at E18.5, mutant submandibular glands fail to show apical expression of the water channel aquaporin 5 and display absence of staining for SMGC (a marker for tubule secretory cells) throughout the gland
• at E18.5, mutant submandibular glands maintain apicobasal cell polarity but show altered ZO-1 organization and fail to form lumens in both acinar and ductal structures or, in some cases, show poorly formed lumens
• mucin presence and distribution is altered at E16.5 and E18.5; mucin is expressed only in E18.5 wild-type glands
• at E18.5, mutant submandibular glands display a marked decrease in size (~1.5 mm in length and 1.3 mm in width) relative to wild-type glands (~2.5 mm in length and 1.5 mm in width)
• at E18.5, mutant submandibular glands display poorly developed lobular regions and a small round structure, indicating hypoplasia

endocrine/exocrine glands
• at E18.5, mutant submandibular glands and sublingual glands are hard to distinguish unlike in wild-type controls
• at E18.5, mutant submandibular glands have completely branched and canaliculized ducts but show signs of underdeveloped lobules that lack tubule secretory cells and ducts are connected directly with terminal buds (i.e. poor lumen formation)
• at E18.5, mutant inner tubule cells fail to differentiate and the overall morphology of terminal buds is similar to that of wild-type controls at E16.5
• at E16.5, mutant inner duct tubule cells are polygonal in shape and disorganized whereas wild-type controls are cuboidal and aligned in a row
• at E18.5, mutant proacinar cells are located at the distal end of the bud and lack secretory granules
• at E18.5, mutant submandibular glands fail to show apical expression of the water channel aquaporin 5 and display absence of staining for SMGC (a marker for tubule secretory cells) throughout the gland
• at E18.5, mutant submandibular glands maintain apicobasal cell polarity but show altered ZO-1 organization and fail to form lumens in both acinar and ductal structures or, in some cases, show poorly formed lumens
• mucin presence and distribution is altered at E16.5 and E18.5; mucin is expressed only in E18.5 wild-type glands
• at E18.5, mutant submandibular glands display a marked decrease in size (~1.5 mm in length and 1.3 mm in width) relative to wild-type glands (~2.5 mm in length and 1.5 mm in width)
• at E18.5, mutant submandibular glands display poorly developed lobular regions and a small round structure, indicating hypoplasia


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory