Phenotypes associated with this allele

• Allele Symbol: Derl2^tm1.2Hpl
• Allele Name: targeted mutation 1.2, Hidde Ploegh
• Allele ID: MGI:4947129
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Derl2^tm1.2Hpl/Derl2^tm1.2Hpl	involves: BALB/cJ	MGI:4947225

Genotype
MGI:4947225

hm1

• Allelic Composition: Derl2^tm1.2Hpl/Derl2^tm1.2Hpl
• Genetic Background: involves: BALB/cJ

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

mortality/aging

lethality, incomplete penetrance ( J:170650 )

• while most mice die within the first 24 hours, a few mice survive to adulthood

premature death ( J:170650 )

• rare surviving mice are euthanized by 12 months due to wasting

pregnancy-related premature death ( J:170650 )

• female mice exhibit late-stage abortion necessitating euthanasia

neonatal lethality, incomplete penetrance ( J:170650 )

• most mice die within the first 24 hours

• however, a few mice survive to adulthood

reproductive system

male infertility ( J:170650 )

♂

skeleton

abnormal axial skeleton morphology ( J:170650 )

• mice exhibit linear calcifications perpendicular to the axis of rib and periodic nodular thickenings compared with wild-type mice

sternebra fusion ( J:170650 )

• of the third and fourth sternebrae at E18.5

abnormal rib morphology ( J:170650 )

• ribs exhibit defective cartilage structure with abnormal chondrocytes compared to in wild-type mice

abnormal thoracic cage shape ( J:170650 )

• inverted at 2 to 4 months that worsens with age

abnormal chondrocyte morphology ( J:170650 )

• ribs exhibit defective cartilage structure with abnormal chondrocytes compared to in wild-type mice

• chondrocytes exhibit eosinophilic cytoplasmic inclusions unlike in wild-type cells

abnormal chondrocyte physiology ( J:170650 )

• chondrocytes exhibit intracellular retention of extracellular matrix components unlike wild-type mice

respiratory system

abnormal lung volume ( J:170650 )

• rare surviving mice exhibit decreased lung volume compared with wild-type mice

respiratory distress ( J:170650 )

• in adults do to reduced lung volume

• however, breathing at birth is normal

growth/size/body

decreased body weight ( J:170650 )

• in surviving mice

cachexia ( J:170650 )

• in rare surviving mice

cellular

abnormal cell physiology ( J:170650 )

• mouse embryonic fibroblasts exhibit constitutive unfolded protein response compared with wild-type mice

behavior/neurological

absent gastric milk in neonates ( J:170650 )

homeostasis/metabolism

hypoglycemia ( J:170650 )

• in neonates