Phenotypes associated with this allele

• Allele Symbol: Del(11Cops3-Gid4)2Jrl
• Allele Name: deletion, Chr 11, James R Lupski 2
• Allele ID: MGI:3521986
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(11Cops3-Gid4)2Jrl/+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3522006

Genotype
MGI:3522006

ht1

• Allelic Composition: Del(11Cops3-Gid4)2Jrl/+
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

behavior/neurological

abnormal contextual conditioning behavior ( J:125089 )

• mice display defective context-dependent learning relative to wild-type mice

abnormal response to new environment ( J:125089 )

• in a novel area, mice are hypoactive, spend less time moving and travel shorter distances

• in an open field, mice rear more and spend more time exploring the center of an open field than wild-type mice

increased startle reflex ( J:125089 )

increased vertical activity ( J:125089 )

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

decreased locomotor activity ( J:125089 )

• in a novel area, mice are hypoactive, spend less time moving and travel shorter distances

craniofacial

short nasal bone ( J:94405 )

• length and height at tip were statistically shorter

asymmetric snout ( J:94405 )

• snout sometimes curved to the right or left

flattened snout ( J:94405 )

• flat to slightly concave snout

short snout ( J:94405 )

• variably shorter snout often close to normal length

vision/eye

ocular hypertelorism ( J:94405 )

• more widely spaced eyes but distance variable, often near normal

growth/size/body

short nasal bone ( J:94405 )

• length and height at tip were statistically shorter

asymmetric snout ( J:94405 )

• snout sometimes curved to the right or left

flattened snout ( J:94405 )

• flat to slightly concave snout

short snout ( J:94405 )

• variably shorter snout often close to normal length

obese ( J:94405 )

• mice were significantly heavier than wild-type littermates at 10 weeks of age

skeleton

short nasal bone ( J:94405 )

• length and height at tip were statistically shorter

respiratory system

short nasal bone ( J:94405 )

• length and height at tip were statistically shorter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-Magenis syndrome		DOID:0060768	OMIM:182290	J:94405