Phenotypes associated with this allele

• Allele Symbol: Snord116^tm1.1Uta
• Allele Name: targeted mutation 1.1, Uta Francke
• Allele ID: MGI:3773673
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Snord116^tm1.1Uta/Snord116^+	involves: C57BL/6J	MGI:3774117

Genotype
MGI:3774117

ht1

• Allelic Composition: Snord116^tm1.1Uta/Snord116⁺
• Genetic Background: involves: C57BL/6J

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

mortality/aging

mortality/aging ( J:131662 )

N • almost all mutants with the paternally inherited deletion survive to adulthood and appear healthy at 18 months

growth/size/body

decreased body length ( J:131662 )

• at 5 months of age, body lengths of mutant males and females are shorter by around 4 and 3%, respectively, than wild-type mice (differences are statistically significant)

decreased susceptibility to diet-induced obesity ( J:131662 )

• when fed a high-fat diet for 4 months from 8 weeks of age, mutants carrying the paternally-inherited deletion gain less weight than wild-type littermates, with the differences more pronounced in males

postnatal growth retardation ( J:131427 )

slow postnatal weight gain ( J:131662 )

• at birth, pups with the paternally-inherited allele are indistinguishable from normal littermates, but beginning at P2, mutants fail to gain weight as effectively as littermates; by 3 weeks, mutant weights are 60% of wild-type male and female weights

• growth rates appear to normalize after weaning, but weight differences persist to maturity in both genders

behavior/neurological

behavior/neurological phenotype ( J:131662 )

N • unlike other mouse models of Prader-Willi syndrome, mutant pups carrying the paternally-inherited deletion show normal milk intake, righting ability, and muscle tone and strenght after birth and during early postnatal period

abnormal motor learning ( J:131662 )

• in accelerating rotarod trials at 2 and 5 months of age, mice carrying the paternally-inherited deletion display essentially flat learning curves (little improvement) over a 6-day training period, whereas control animals display significant improvements

abnormal food intake ( J:131662 )

• when provided with a high-fat diet, both wild-type and mutant animals reduce their total food intake, but both mutant males and females have lower food intake during the 'day-time' phase relative to wild-type animals (total energy intake is similar to wild-type, indicating that mutants compensate for reduced 'day-time' intake by increasing intake during dark-phase)

polyphagia ( J:131662 )

• at 6 months of age, both males and females carrying the paternally-inherited deletion allele show increases in daily food intake normalized to body weight (22% or 32%, respectively; at 3 months, males show significant hyperphagia relative to wild-type males, but to a lesser degree than at 6 months, while in females carrying the paternally-inherited deletion allele, daily food intake increases do not reach significance

• at 10 months, males and females carrying the paternally-inherited deletion allele display significant hyperphagia with daily food intake increased by 31 and 29% respectively compared to wild-type animals

increased anxiety-related response ( J:131662 )

• 3-4 month old mice with the paternally-inherited deletion exhibit increased anxiety-relatted behavior in elevated plus-maze tests (more entries into and time spent in closed arms of maze relative to wild-type mice)

nervous system

decreased brain weight ( J:131662 )

• at P5 and 13, brain weight is only slight decreased (95% and 92%, respectively, of wild-type brain weight)

reproductive system

reproductive system phenotype ( J:131662 )

N • testis and ovary sizes of mutants carrying the paternally-inherited deletion are proportional to their body size, and histologically normal

delayed vaginal opening ( J:131662 )

• in mutant females with the paternally-inherited deletion, vaginal opening is delayed by 3.7 days

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:131662 )

N • morphology of pituitary gland in mutants is normal

homeostasis/metabolism

abnormal homeostasis ( J:131662 )

• when mice are restricted to 80% of their normal food intake levels, wild-type mice gradually lose weight but animals carrying the paternally-inherited deletion allele are better at maintaining their weight (females are significantly better, but males also show improved weight stability compared to wild-type)

decreased susceptibility to diet-induced obesity ( J:131662 )

• when fed a high-fat diet for 4 months from 8 weeks of age, mutants carrying the paternally-inherited deletion gain less weight than wild-type littermates, with the differences more pronounced in males

decreased circulating glucose level ( J:131662 )

• on a high-fat diet, males carrying the paternally-inherited deletion allele have lower resting blood glucose levels and display a smaller peak level after glucose injecion compared to wild-type males

increased circulating ghrelin level ( J:131662 )

• when allowed ad libitum food access, adult mice carrying the paternally-inherited deletion allele have ghrelin levels 2.3-fold higher than in wild-type animals

decreased circulating insulin-like growth factor I level ( J:131662 )

• animals with paternally-inherited mutant allele have 39% of wild-type level at 4 weeks of age, and 57% of wild-type levels at 8 weeks

increased oxygen consumption ( J:131662 )

• mice carrying the paternally-inherited deletion allele have significantly rates of oxygen consumption

increased respiratory quotient ( J:131662 )

• mice carrying the paternally-inherited deletion allele exhibit a higher respiratory exchange ratio than wild-type mice

increased insulin sensitivity ( J:131662 )

• on a normal diet, males carrying the paternally-inherited deletion have similar basal blood glucose levels to wild-type but display significantly increased response to insulin injection; mutant males fed a high-fat diet also display significantly increased insulin sensitivity

adipose tissue

decreased total body fat amount ( J:131662 )

• on high-fat and normal chow diets, animals carrying the paternally-inherited deletion allele display decreased fat storage compared to wild-type animals

decreased percent body fat/body weight ( J:131662 )

• when fed a high-fat diet for 4 months, mutants carrying the paternally-inherited deletion allele have significantly lower body fat than wild-type animals (mutant males -6.9%, mutant females -7.2% lower than wild-type)

• 5 month-old mutant males on regular chow diet show an insignificant trend (-3.6%) toward decreased body fat content while females show a significant decrease of 4.2% relative to wild-type; 9-month old animals on a regular chow diet significantly lower body fat content (-9% in mutant males, -5% in females)

digestive/alimentary system

small stomach ( J:131662 )

• stomachs in animals receiving paternally-inherited mutant allele are significantly smaller than in wild-type littermates; at P5 and 13, stomachs are 67 and 68% the size of wild-type

liver/biliary system

small liver ( J:131662 )

• size is strikingly reduced in size upon examination at P5 and 13

decreased liver weight ( J:131662 )

• at P5, liver weight is 72% of wild-type animals, and at p13, liver weight is only 56% of wild-type

cellular

maternal imprinting ( J:131662 )

• the Snord116 cluster is imprinted and the maternal copy is silenced during oogenesis; only inheritance of the paternal allele with the Snord116 cluster deletion produces the growth deficiency and polyphagia phenotypes in mice

• when offspring have maternal inheritance of the deleted allele, they are normal in size and show normal lifespans

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:131427