Phenotypes Associated with This Genotype

Genotype
MGI:3577939

• Allelic Composition: Rai1^tm1Jrl/Rai1⁺
• Genetic Background: involves: 129S/SvEvBrd * C57BL/6

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

growth/size/body

abnormal nasal bone morphology ( J:98073 )

• main cause of craniofacial defects

broad nasal bone ( J:98073 )

short nasal bone ( J:98073 )

abnormal snout morphology ( J:98073 )

• concave shape to snout

• right or left curvature of snout (7% of animals)

broad snout ( J:98073 )

• short, broad snouts seen in about 18% of animals

short snout ( J:98073 )

• short, broad snouts seen in about 18% of animals

decreased body weight ( J:98073 )

• underweight at 4-7 weeks of age

obese ( J:98073 )

• males become overweight by 20 weeks of age

• females overweight by 23 weeks of age

postnatal growth retardation ( J:125089 )

• mice exhibit postnatal growth retardation relative to wild-type mice

• however, by 3 months there is no significant differences in weight relative to wild-type mice

craniofacial

abnormal nasal bone morphology ( J:98073 )

• main cause of craniofacial defects

broad nasal bone ( J:98073 )

short nasal bone ( J:98073 )

abnormal snout morphology ( J:98073 )

• concave shape to snout

• right or left curvature of snout (7% of animals)

broad snout ( J:98073 )

• short, broad snouts seen in about 18% of animals

short snout ( J:98073 )

• short, broad snouts seen in about 18% of animals

skeleton

abnormal nasal bone morphology ( J:98073 )

• main cause of craniofacial defects

broad nasal bone ( J:98073 )

short nasal bone ( J:98073 )

behavior/neurological

increased vertical activity ( J:125089 )

• in an open field, mice rear more than wild-type mice

seizures ( J:125089 )

• 2% of mice display seizures after the age of 4 months

nervous system

seizures ( J:125089 )

• 2% of mice display seizures after the age of 4 months

abnormal brain wave pattern ( J:125089 )

• video electroencephalogram indicates abnormal wake and sleep background with frequent epileptiform discharges despite the lack of electographic seizures

respiratory system

abnormal nasal bone morphology ( J:98073 )

• main cause of craniofacial defects

broad nasal bone ( J:98073 )

short nasal bone ( J:98073 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-Magenis syndrome		DOID:0060768	OMIM:182290	J:98073