Mouse Genome Informatics
ht1
    Del(11Cops3-Rnf112)1Jrl/+
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• sperm with a higher proportion of abnormal tails (J:83302)
• sperm counts reduced although testes are normal (J:83302)

craniofacial
• broader shorter snout

growth/size/body
• 4.5% compared to 2% in wild-type mice
• broader shorter snout
• underweight at birth
• mice were significantly overweight at 4 months of age

adipose tissue
• 4.5% compared to 2% in wild-type mice
• abdominal fat pad weight is increased (1.93+/-0.20 g compared to 0.56+/-0.05 g in wild-type mice)

nervous system
• 6 females and 1 male exhibited seizures
• overt clinical seizures seen at 4 weeks to 6 months of age
• generalized tonic clonic seizures
• seizures could occur without a clear EEG signature
• EEG showed paroxysmal spikes and slow discharges

skeleton

behavior/neurological
• self-injury behavior is observed
• however, no self-injury behavior is observed when mice are single housed
• 23.60+/-0.06 hours compared to 23.87+/-0.02 hours in wild-type mice
• 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
• however, there is no difference in total distance, movement time or rearing response in female mice
• 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
• 6 females and 1 male exhibited seizures
• 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
• sperm with a higher proportion of abnormal tails (J:83302)

Mouse Models of Human Disease
OMIM IDRef(s)
Smith-Magenis Syndrome; SMS 182290 J:83302


Mouse Genome Informatics
cx2
    Dp(11Cops3-Rnf112)1Jrl/Del(11Cops3-Rnf112)1Jrl
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mice are hyperactive
• however, vertical activity, center to total distance ratio explored and contextual conditioning behaviors are normal

craniofacial
N
• craniofacial development is normal unlike in Del(11Cops3-Zfp179)1Jrl heterozygotes (J:83302)

growth/size/body
N
• mice have normal body weights unlike in either heterozygote (J:83302)