Phenotypes Associated with This Genotype

Genotype
MGI:4835032

• Allelic Composition: Rai1^tm1Jrl/Rai1⁺
• Genetic Background: B6.129S7-Rai1^tm1Jrl/J

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

endocrine/exocrine glands

increased amylin secretion ( J:164451 )

• increase in serum amylin levels in fasted mice older than 30 weeks of age

growth/size/body

obese ( J:164451 )

• although at 5 weeks of age, males are smaller than wild-type, by 10 and 15 weeks of age, no weight differences are seen between mutants and wild-type, and by 20 weeks of age, males are significantly larger than wild-type males

• females begin to gain weight around 20 weeks of age and are significantly larger at 25 and 30 weeks of age

• rate of weight gain in about 2-fold that of wild-type

• mice do not exhibit ketonuria or differences in insulin or glucose levels

adipose tissue

increased white adipose tissue amount ( J:164451 )

♀ • increase in white adipose tissue in females, with substantial adipose tissue found in thoracic cavity of older females and substantial fat stores around abdominal organs

increased abdominal adipose tissue amount ( J:164451 )

♀ • females have a higher proportion of abdominal fat than wild-type mice

♀ • however no differences in adipocyte cell size or shape are observed

behavior/neurological

increased food intake ( J:164451 )

• fasting studies show a delayed satiation response compared to wild-type mice; mutants continue to eat larger amounts even 60 hours after fasting when wild-type return to normal levels of eating

polyphagia ( J:164451 )

• mutants are hyperphagic at 20 and 25 weeks, consuming about 50% more food than wild-type

• at 15 weeks of age, mice consume more food even though their weight is no different from wild-type

• at 15 weeks of age, mice consume a higher proportion of their food during the light phase (rest phase) than wild-type mice

abnormal circadian behavior ( J:164451 )

• at 15 weeks of age, mice consume a higher proportion of their food during the light phase (rest phase) than wild-type mice

homeostasis/metabolism

increased circulating corticosterone level ( J:164451 )

• corticosterone levels are higher in fasted mutants than in wild-type mice

increased circulating leptin level ( J:164451 )

• increase in serum leptin levels in fasted mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-Magenis syndrome		DOID:0060768	OMIM:182290	J:164451