Phenotypes Associated with This Genotype

Genotype
MGI:2680011

• Allelic Composition: Stub1^tm1Cpat/Stub1^tm1Cpat
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:86213 )

• approximately 5% are cannibalized shortly after birth, putatively after perinatal death

postnatal lethality, incomplete penetrance ( J:86213 )

• incomplete penetrance

• 20% die within the first 10 days after birth

• lethality is not rescued by transfer to foster mothers

muscle

abnormal muscle fiber morphology ( J:245069 )

• quadriceps muscle show less subsarcolemmal mitochondria compared to controls

abnormal sarcoplasmic reticulum morphology ( J:245069 )

• 6 month old mice exhibit increased sarcoplasmic reticulum compartments in quadriceps muscle and gastrocnemius, with toxic oligomers and tubular aggregates, but not in soleus

abnormal skeletal muscle fiber type ratio ( J:245069 )

• muscle fiber composition in the gastrocnemius is affected, with most fibers having high levels of diffuse staining for ATPase and higher levels of COX content and strong NADH-TR staining

behavior/neurological

decreased fluid intake ( J:260672 )

• mice show a decrease in fluid intake, with cumulative fluid intake approximately 2.5-fold less than controls

renal/urinary system

increased urine creatinine level ( J:260672 )

increased urine chloride ion level ( J:260672 )

• increase in urine chloride level

• however, when urinary electrolyte concentrations are normalized to creatinine, no differences are seen

increased urine potassium level ( J:260672 )

• increase in urine potassium concentration

• however, when urinary electrolyte concentrations are normalized to creatinine, no differences are seen

increased urine sodium level ( J:260672 )

• increase in urine sodium level

• however, when urinary electrolyte concentrations are normalized to creatinine, no differences are seen

increased urine osmolality ( J:260672 )

• osmolality of spontaneous voided urine is higher, with average urine osmolality 1.5-fold greater than controls

• however, baseline serum electrolytes are normal

increased urine urea nitrogen level ( J:260672 )

• increase in urine baseline urea level

• however, when normalized to creatinine, no differences are seen

cellular

abnormal cell physiology ( J:86213 )

• fibroblasts show diminished responses to stress

• viability of fibroblasts after heat shock is reduced compared to wild-type and mutants only develop partial thermotolerance after preconditioning with a sublethal heat challenge

abnormal apoptosis ( J:86213 )

• apoptosis is observed in the thymii of deceased neonates

• increase in apoptosis of GI tract cells and splenocytes after thermal challenge

increased thymocyte apoptosis ( J:86213 )

• evidence of massive thymocyte apoptosis in deceased neonates

immune system

increased thymocyte apoptosis ( J:86213 )

• evidence of massive thymocyte apoptosis in deceased neonates

thymus atrophy ( J:86213 )

• atrophied in deceased neonates

thymus hypoplasia ( J:86213 )

• observe only in deceased neonates

hematopoietic system

increased thymocyte apoptosis ( J:86213 )

• evidence of massive thymocyte apoptosis in deceased neonates

thymus atrophy ( J:86213 )

• atrophied in deceased neonates

thymus hypoplasia ( J:86213 )

• observe only in deceased neonates

homeostasis/metabolism

increased urine creatinine level ( J:260672 )

increased urine chloride ion level ( J:260672 )

• increase in urine chloride level

• however, when urinary electrolyte concentrations are normalized to creatinine, no differences are seen

increased urine potassium level ( J:260672 )

• increase in urine potassium concentration

• however, when urinary electrolyte concentrations are normalized to creatinine, no differences are seen

increased urine sodium level ( J:260672 )

• increase in urine sodium level

• however, when urinary electrolyte concentrations are normalized to creatinine, no differences are seen

increased urine osmolality ( J:260672 )

• osmolality of spontaneous voided urine is higher, with average urine osmolality 1.5-fold greater than controls

• however, baseline serum electrolytes are normal

increased urine urea nitrogen level ( J:260672 )

• increase in urine baseline urea level

• however, when normalized to creatinine, no differences are seen

increased susceptibility to injury ( J:86213 )

• 100% of mutants die rapidly, either during or immediately after a thermal challenge of 42 degrees C for 15 minutes, putatively due to fluid shifts or endotoxemia resulting from compromised GI barrier

• mutants exhibit temperature sensitivity as indicated by impaired responses to thermal challenge resulting in stress-responsive lesions such as edema, hyperemia, increased apoptosis and small intestinal damage

endocrine/exocrine glands

increased thymocyte apoptosis ( J:86213 )

• evidence of massive thymocyte apoptosis in deceased neonates

thymus atrophy ( J:86213 )

• atrophied in deceased neonates

thymus hypoplasia ( J:86213 )

• observe only in deceased neonates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive spinocerebellar ataxia 16		DOID:0080029	OMIM:615768	J:245069