Phenotypes Associated with This Genotype

Genotype
MGI:5433332

• Allelic Composition: Sec23b^{Gt(AD0407)Wtsi}/Sec23b^{Gt(AD0407)Wtsi}
• Genetic Background: B6J.129P2-Sec23b^{Gt(AD0407)Wtsi}

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

Small size of Sec23b^{Gt(AD0407)Wtsi}/Sec23b^{Gt(AD0407)Wtsi} neonates

mortality/aging

neonatal lethality, complete penetrance ( J:186391 )

• generally die within 12 h of birth and none survive past 24 h

behavior/neurological

abnormal suckling behavior ( J:186391 )

• fail to suckle

growth/size/body

nasal gland degeneration ( J:186391 )

• degeneration of the nasal glands at E18.5

decreased birth weight ( J:186391 )

• about 25% lower than littermate controls

endocrine/exocrine glands

nasal gland degeneration ( J:186391 )

• degeneration of the nasal glands at E18.5

abnormal Paneth cell morphology ( J:186391 )

abnormal salivary gland morphology ( J:186391 , J:237614 )

• disruption of the structures of the serous and mucous acini of salivary glands (J:186391)

• E-cadherin and beta-catenin are mislocalized in the salivary glands at E15.5 (J:237614)

abnormal sublingual gland morphology ( J:186391 )

• serous acini contain grossly dilated ER and only a small percentage of acini contain secretory granules

abnormal submandibular gland morphology ( J:186391 )

• mucous acini contain grossly dilated ER and lack secretory granules

salivary gland degeneration ( J:186391 )

• degeneration of the salivary glands at E18.5

gastric gland degeneration ( J:186391 )

• degeneration of gastric glands

abnormal exocrine pancreas physiology ( J:186391 )

• accumulation of proamylase and other exocrine proteins in the ER

abnormal pancreas morphology ( J:186391 )

• appears more opaque with a disorganized structure compared to controls

abnormal pancreatic acinus morphology ( J:186391 )

• grape-like clusters are absent and there is no discernible islet structure

abnormal pancreatic acinar cell morphology ( J:186391 , J:237614 )

• a few cells show distended ER at E13.5 and most cells have grossly distended ER at E16.5 (J:186391)

• E-cadherin (CDH1) is mislocalized to the cytoplasm of acinar cells at E11.5 and largely co-localizes with carboxylpeptidase A (CPA) at E15.5, suggesting that it remains inside the endoplasmic reticulum (J:237614)

• beta-catenin (which binds to CDH1) is also mislocalized at E15.5 (J:237614)

absent pancreatic acinar cell zymogen granule ( J:186391 )

• at E16.5

decreased pancreatic acinar cell number ( J:186391 )

• decrease in the size and number of pancreatic acini

pancreatic acinar hypoplasia ( J:186391 )

• decrease in the size and number of pancreatic acini

abnormal endocrine pancreas morphology ( J:186391 )

• altered distribution pattern of endocrine cells at E13.5 - E18.5

decreased pancreatic alpha cell number ( J:186391 )

decreased pancreatic beta cell number ( J:186391 )

decreased pancreatic islet number ( J:186391 )

• fail to form

abnormal endocrine pancreas development ( J:186391 )

• alpha and beta cells remain scattered throughout the pancreas rather than migrating to form the islets of Langerhans

• no defects are seen in pre-patterning, branching morphogenesis or pancreatic progenitor fate assignment

small pancreas ( J:186391 )

• decrease in the volume of the dorsal and ventral pancreas

pancreas degeneration ( J:186391 )

pancreas inflammation ( J:186391 )

craniofacial

nasal gland degeneration ( J:186391 )

• degeneration of the nasal glands at E18.5

cellular

abnormal intestinal goblet cell morphology ( J:186391 )

increased apoptosis ( J:186391 )

• apoptosis of secretory tissues in the in pancreas, salivary gland, and gastric glands in the developing embryo

• apoptosis starts after cells start to synthesize large amounts of secretory cargo

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:237614 )

N • embryos do not exhibit collagen secretion defects at E11.5

decreased circulating glucose level ( J:186391 )

• at 4 to 8 h after birth under nonsuckling conditions

hematopoietic system

hematopoietic system phenotype ( J:186391 )

N • no significant differences in red blood cell count, hemoglobin, or hematocrit levels in neonates

digestive/alimentary system

abnormal pancreatic acinus morphology ( J:186391 )

• grape-like clusters are absent and there is no discernible islet structure

abnormal pancreatic acinar cell morphology ( J:186391 , J:237614 )

• a few cells show distended ER at E13.5 and most cells have grossly distended ER at E16.5 (J:186391)

• E-cadherin (CDH1) is mislocalized to the cytoplasm of acinar cells at E11.5 and largely co-localizes with carboxylpeptidase A (CPA) at E15.5, suggesting that it remains inside the endoplasmic reticulum (J:237614)

• beta-catenin (which binds to CDH1) is also mislocalized at E15.5 (J:237614)

absent pancreatic acinar cell zymogen granule ( J:186391 )

• at E16.5

decreased pancreatic acinar cell number ( J:186391 )

• decrease in the size and number of pancreatic acini

pancreatic acinar hypoplasia ( J:186391 )

• decrease in the size and number of pancreatic acini

abnormal intestine morphology ( J:186391 )

• degeneration of the glands in the intestines at E18.5

abnormal intestinal goblet cell morphology ( J:186391 )

abnormal Paneth cell morphology ( J:186391 )

abnormal salivary gland morphology ( J:186391 , J:237614 )

• disruption of the structures of the serous and mucous acini of salivary glands (J:186391)

• E-cadherin and beta-catenin are mislocalized in the salivary glands at E15.5 (J:237614)

abnormal sublingual gland morphology ( J:186391 )

• serous acini contain grossly dilated ER and only a small percentage of acini contain secretory granules

abnormal submandibular gland morphology ( J:186391 )

• mucous acini contain grossly dilated ER and lack secretory granules

salivary gland degeneration ( J:186391 )

• degeneration of the salivary glands at E18.5

gastric gland degeneration ( J:186391 )

• degeneration of gastric glands

abnormal stomach glandular epithelium morphology ( J:186391 )

• degeneration of the glands in the stomach at E18.5

abnormal exocrine pancreas physiology ( J:186391 )

• accumulation of proamylase and other exocrine proteins in the ER

immune system

pancreas inflammation ( J:186391 )

respiratory system

nasal gland degeneration ( J:186391 )

• degeneration of the nasal glands at E18.5