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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(11Cops3-Rnf112)1Jrl
deletion, Chr 11, James R Lupski 1
MGI:3521985
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Del(11Cops3-Rnf112)1Jrl/+ involves: 129S7/SvEvBrd * C57BL/6 MGI:3522005
cx2
Dp(11Cops3-Rnf112)1Jrl/Del(11Cops3-Rnf112)1Jrl involves: 129S7/SvEvBrd * C57BL/6 MGI:3758693


Genotype
MGI:3522005
ht1
Allelic
Composition
Del(11Cops3-Rnf112)1Jrl/+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(11Cops3-Rnf112)1Jrl mutation (1 available); any Del(11Cops3-Rnf112)1Jrl mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• sperm with a higher proportion of abnormal tails (J:83302)
• sperm with a higher proportion of abnormal tails (J:83302)
• sperm counts reduced although testes are normal (J:83302)
• sperm counts reduced although testes are normal (J:83302)
(J:83302)
(J:83302)

craniofacial
• broader shorter snout (J:83302)
• broader shorter snout (J:83302)

growth/size/body
• 4.5% compared to 2% in wild-type mice (J:83302)
• 4.5% compared to 2% in wild-type mice (J:83302)
• broader shorter snout (J:83302)
• broader shorter snout (J:83302)
• underweight at birth (J:83302)
• underweight at birth (J:83302)
• mice were significantly overweight at 4 months of age (J:83302)
• mice were significantly overweight at 4 months of age (J:83302)

adipose tissue
• 4.5% compared to 2% in wild-type mice (J:83302)
• 4.5% compared to 2% in wild-type mice (J:83302)
• abdominal fat pad weight is increased (1.93+/-0.20 g compared to 0.56+/-0.05 g in wild-type mice) (J:83302)
• abdominal fat pad weight is increased (1.93+/-0.20 g compared to 0.56+/-0.05 g in wild-type mice) (J:83302)

nervous system
• 6 females and 1 male exhibited seizures (J:88027)
• 6 females and 1 male exhibited seizures (J:88027)
• overt clinical seizures seen at 4 weeks to 6 months of age (J:83302)
• generalized tonic clonic seizures (J:83302)
• seizures could occur without a clear EEG signature (J:83302)
• overt clinical seizures seen at 4 weeks to 6 months of age (J:83302)
• generalized tonic clonic seizures (J:83302)
• seizures could occur without a clear EEG signature (J:83302)
• EEG showed paroxysmal spikes and slow discharges (J:83302)
• EEG showed paroxysmal spikes and slow discharges (J:83302)

skeleton

behavior/neurological
• self-injury behavior is observed (J:88027)
• however, no self-injury behavior is observed when mice are single housed (J:88027)
• self-injury behavior is observed (J:88027)
• however, no self-injury behavior is observed when mice are single housed (J:88027)
• 23.60+/-0.06 hours compared to 23.87+/-0.02 hours in wild-type mice (J:88027)
• 23.60+/-0.06 hours compared to 23.87+/-0.02 hours in wild-type mice (J:88027)
• male mice, but not female mice, rear less frequently than wild-type mice although the amount of rearing is equivalent (J:88027)
• however, there is no difference in rearing response in female mice (J:88027)
• male mice, but not female mice, rear less frequently than wild-type mice although the amount of rearing is equivalent (J:88027)
• however, there is no difference in rearing response in female mice (J:88027)
• when placed in an open field, mice are hypoactive as measured by total distance and movement time data (J:88027)
• when placed in an open field, male mice travel less distance and spend less time moving compared to wild-type mice (J:88027)
• however, there is no difference in total distance, movement time or rearing response in female mice (J:88027)
• when placed in an open field, mice are hypoactive as measured by total distance and movement time data (J:88027)
• when placed in an open field, male mice travel less distance and spend less time moving compared to wild-type mice (J:88027)
• however, there is no difference in total distance, movement time or rearing response in female mice (J:88027)
• 6 females and 1 male exhibited seizures (J:88027)
• 6 females and 1 male exhibited seizures (J:88027)
• overt clinical seizures seen at 4 weeks to 6 months of age (J:83302)
• generalized tonic clonic seizures (J:83302)
• seizures could occur without a clear EEG signature (J:83302)
• overt clinical seizures seen at 4 weeks to 6 months of age (J:83302)
• generalized tonic clonic seizures (J:83302)
• seizures could occur without a clear EEG signature (J:83302)

cellular
• sperm with a higher proportion of abnormal tails (J:83302)
• sperm with a higher proportion of abnormal tails (J:83302)

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




Genotype
MGI:3758693
cx2
Allelic
Composition
Dp(11Cops3-Rnf112)1Jrl/Del(11Cops3-Rnf112)1Jrl
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(11Cops3-Rnf112)1Jrl mutation (1 available); any Del(11Cops3-Rnf112)1Jrl mutation (1 available)
Dp(11Cops3-Rnf112)1Jrl mutation (1 available); any Dp(11Cops3-Rnf112)1Jrl mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice are hyperactive (J:114996)
• however, vertical activity, center to total distance ratio explored and contextual conditioning behaviors are normal (J:114996)
• mice are hyperactive (J:114996)
• however, vertical activity, center to total distance ratio explored and contextual conditioning behaviors are normal (J:114996)

craniofacial
N
• craniofacial development is normal unlike in Del(11Cops3-Zfp179)1Jrl heterozygotes (J:83302)
• 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)
• mice have normal body weights unlike in either heterozygote (J:83302)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory