Phenotypes Associated with This Genotype

Genotype
MGI:3522005

• Allelic Composition: Del(11Cops3-Rnf112)1Jrl/+
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

reproductive system

abnormal gametogenesis ( J:83302 )

abnormal sperm flagellum morphology ( J:83302 )

♂ • sperm with a higher proportion of abnormal tails

oligozoospermia ( J:83302 )

♂ • sperm counts reduced although testes are normal

reduced male fertility ( J:83302 )

♂

craniofacial

abnormal cranium morphology ( J:83302 )

decreased cranium height ( J:83302 )

abnormal nasal bone morphology ( J:83302 )

broad nasal bone ( J:83302 )

short nasal bone ( J:83302 )

broad snout ( J:83302 )

• broader shorter snout

short snout ( J:83302 )

• broader shorter snout

growth/size/body

abnormal nasal bone morphology ( J:83302 )

broad nasal bone ( J:83302 )

short nasal bone ( J:83302 )

broad snout ( J:83302 )

• broader shorter snout

short snout ( J:83302 )

• broader shorter snout

decreased birth weight ( J:83302 )

• underweight at birth

abnormal body weight ( J:83302 )

obese ( J:83302 )

• mice were significantly overweight at 4 months of age

adipose tissue

increased abdominal fat pad weight ( J:83302 )

• abdominal fat pad weight is increased (1.93+/-0.20 g compared to 0.56+/-0.05 g in wild-type mice)

increased percent body fat/body weight ( J:83302 )

• 4.5% compared to 2% in wild-type mice

nervous system

seizures ( J:88027 )

• 6 females and 1 male exhibited seizures

tonic-clonic seizures ( J:83302 )

• overt clinical seizures seen at 4 weeks to 6 months of age

• generalized tonic clonic seizures

• seizures could occur without a clear EEG signature

abnormal brain wave pattern ( J:83302 )

• EEG showed paroxysmal spikes and slow discharges

skeleton

abnormal cranium morphology ( J:83302 )

decreased cranium height ( J:83302 )

abnormal nasal bone morphology ( J:83302 )

broad nasal bone ( J:83302 )

short nasal bone ( J:83302 )

behavior/neurological

abnormal behavior ( J:88027 )

• self-injury behavior is observed

• however, no self-injury behavior is observed when mice are single housed

decreased vertical activity ( J:88027 )

• male mice, but not female mice, rear less frequently than wild-type mice although the amount of rearing is equivalent

• however, there is no difference in rearing response in female mice

decreased locomotor activity ( J:88027 )

• when placed in an open field, mice are hypoactive as measured by total distance and movement time data

• when placed in an open field, male mice travel less distance and spend less time moving compared to wild-type mice

• however, there is no difference in total distance, movement time or rearing response in female mice

shortened circadian behavior period ( J:88027 )

• 23.60+/-0.06 hours compared to 23.87+/-0.02 hours in wild-type mice

seizures ( J:88027 )

• 6 females and 1 male exhibited seizures

tonic-clonic seizures ( J:83302 )

• overt clinical seizures seen at 4 weeks to 6 months of age

• generalized tonic clonic seizures

• seizures could occur without a clear EEG signature

cellular

abnormal sperm flagellum morphology ( J:83302 )

♂ • sperm with a higher proportion of abnormal tails

oligozoospermia ( J:83302 )

♂ • sperm counts reduced although testes are normal

respiratory system

abnormal nasal bone morphology ( J:83302 )

broad nasal bone ( J:83302 )

short nasal bone ( J:83302 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-Magenis syndrome		DOID:0060768	OMIM:182290	J:83302