Phenotypes associated with this allele

• Allele Symbol: Dnajb9^{Gt(KST256)Byg}
• Allele Name: gene trap KST256, BayGenomics
• Allele ID: MGI:4124484
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnajb9^Gt(KST256)Byg/Dnajb9^Gt(KST256)Byg	129P2/OlaHsd-Dnajb9^Gt(KST256)Byg	MGI:5699098
hm2	Dnajb9^Gt(KST256)Byg/Dnajb9^Gt(KST256)Byg	B6.129P2-Dnajb9^Gt(KST256)Byg	MGI:5699100
cx3	Dnajb9^Gt(KST256)Byg/Dnajb9^Gt(KST256)Byg Tg(CAG-XBP1*/Venus)#Miur/?	involves: 129P2/OlaHsd * C57BL/6	MGI:5699101

Genotype
MGI:5699098

hm1

• Allelic Composition: Dnajb9^{Gt(KST256)Byg}/Dnajb9^{Gt(KST256)Byg}
• Genetic Background: 129P2/OlaHsd-Dnajb9^{Gt(KST256)Byg}

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:226674 )

• however, Mendelian ratios of homozygotes at E18.5

growth/size/body

decreased birth body size ( J:226674 )

decreased birth weight ( J:226674 )

cellular

abnormal endoplasmic reticulum morphology ( J:226674 )

• MEFs have dilated ER cisternae

increased cell death ( J:226674 )

• decreased MEF cell viability after treatment with MG132, tunicamycin, or thapsigargin

homeostasis/metabolism

hypoglycemia ( J:226674 )

• new born mice are severely hypoglycemic

increased circulating glucagon level ( J:226674 )

• significantly elevated plasma glucagon with normal insulin levels

decreased liver glycogen level ( J:226674 )

• decreased hepatic glycogen stores

liver/biliary system

decreased liver glycogen level ( J:226674 )

• decreased hepatic glycogen stores

decreased liver weight ( J:226674 )

• significantly reduced liver weights at birth

behavior/neurological

head tilt ( J:226674 )

hyperactivity ( J:226674 )

circling ( J:226674 )

Genotype
MGI:5699100

hm2

• Allelic Composition: Dnajb9^{Gt(KST256)Byg}/Dnajb9^{Gt(KST256)Byg}
• Genetic Background: B6.129P2-Dnajb9^{Gt(KST256)Byg}

mortality/aging

perinatal lethality, incomplete penetrance ( J:226674 )

• however, Mendelian ratios of homozygotes at E18.5

growth/size/body

decreased birth body size ( J:226674 )

decreased birth weight ( J:226674 )

cellular

abnormal endoplasmic reticulum morphology ( J:226674 )

• MEFs have dilated ER cisternae

increased cell death ( J:226674 )

• decreased MEF cell viability after treatment with MG132, tunicamycin, or thapsigargin

homeostasis/metabolism

abnormal circulating glucose level ( J:226674 )

• elevated blood glucose levels after glucose administration but normal levels in fasted mice

• glucose levels normalized after insulin administration

hypoglycemia ( J:226674 )

• new born mice are severely hypoglycemic

increased circulating glucagon level ( J:226674 )

• significantly elevated plasma glucagon in new borns and adults with normal insulin levels

decreased circulating insulin level ( J:226674 )

• total plasma insulin significantly lower at baseline and after glucose administration

decreased liver glycogen level ( J:226674 )

• decreased hepatic glycogen stores

liver/biliary system

decreased liver glycogen level ( J:226674 )

• decreased hepatic glycogen stores

decreased liver weight ( J:226674 )

• significantly reduced liver weights at birth

behavior/neurological

head tilt ( J:226674 )

hyperactivity ( J:226674 )

circling ( J:226674 )

endocrine/exocrine glands

abnormal pancreatic alpha cell morphology ( J:226674 )

• alpha cells in core of islets in addition to the mantle

• increased number of glucagon granules

increased pancreatic alpha cell number ( J:226674 )

• 101% increase in pancreatic alpha cells

• 18% increase in alpha cell area

abnormal pancreatic beta cell morphology ( J:226674 )

• accumulation of proinsulin in ER of beta-cells

• slight increase in proinsulin

Genotype
MGI:5699101

cx3

• Allelic Composition: Dnajb9^{Gt(KST256)Byg}/Dnajb9^{Gt(KST256)Byg}; Tg(CAG-XBP1*/Venus)#Miur/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

cellular

abnormal endoplasmic reticulum morphology ( J:226674 )

• ER distention in renal tubular epithelial cells and serous cells of salivary glands

• green fluorescence due to ER stress in kidneys and lungs

• GFP immunofluorescence in beta-cells of pancreatic islets

• dilated ER in pancreatic acinar cells at 8 months

increased pancreatic beta cell apoptosis ( J:226674 )

• significant increase in the number of TUNEL+ beta cells per pancreatic islet

endocrine/exocrine glands

increased pancreatic beta cell apoptosis ( J:226674 )

• significant increase in the number of TUNEL+ beta cells per pancreatic islet

abnormal pancreatic acinar cell morphology ( J:226674 )

• vacuolated pancreatic acinar cells at 8 months but not at 8 weeks

abnormal pancreatic acinar cell zymogen granule morphology ( J:226674 )

• immature zymogen granules at 8 months of age

abnormal pancreatic alpha cell morphology ( J:226674 )

• vacuolated alpha-cells

abnormal pancreatic beta cell morphology ( J:226674 )

• vacuolated beta-cells

decreased pancreatic beta cell number ( J:226674 )

• 21% decrease in beta-cell numbers in islets where increased apoptosis is occurring

digestive/alimentary system

abnormal pancreatic acinar cell morphology ( J:226674 )

• vacuolated pancreatic acinar cells at 8 months but not at 8 weeks

abnormal pancreatic acinar cell zymogen granule morphology ( J:226674 )

• immature zymogen granules at 8 months of age