Phenotypes associated with this allele

• Allele Symbol: Iqsec2^em1Csbg
• Allele Name: endonuclease-mediated mutation 1, Cheryl Shoubridge
• Allele ID: MGI:6392156
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Iqsec2^em1Csbg/Iqsec2^+	C57BL/6NHsd-Iqsec2^em1Csbg	MGI:6392160
ot2	Iqsec2^em1Csbg/Y	C57BL/6NHsd-Iqsec2^em1Csbg	MGI:6392161

Genotype
MGI:6392160

ht1

• Allelic Composition: Iqsec2^em1Csbg/Iqsec2⁺
• Genetic Background: C57BL/6NHsd-Iqsec2^em1Csbg

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

behavior/neurological

increased exploration in new environment ( J:284750 )

♀ • increased head dips in an elevated zero maze and increased total distance travelled in the open arms of the elevated zero maze suggesting habituation

impaired spatial learning ( J:284750 )

♀ • indicated by increased exploration of familiar arms in a Y-maze

abnormal spatial working memory ( J:284750 )

♀ • impaired spatial memory indicated by longer time and further distance to find escape hole in the Barnes maze

decreased grip strength ( J:284750 )

♀ • at 3, 5, and 6 month of age using an inverted grid test

increased locomotor activity ( J:284750 )

♀ • with increased speed and total distance traveled

abnormal sexual interaction ( J:284750 )

♀

social withdrawal ( J:284750 )

♀ • reduced overall time of interaction, regardless of the other cage occupant

sporadic seizures ( J:284750 )

♀ • with a large range in age of onset, severity, and progression

nervous system

sporadic seizures ( J:284750 )

♀ • with a large range in age of onset, severity, and progression

abnormal corpus callosum size ( J:284750 )

♀ • at 3, 5, and 6 month of age using an inverted grid test

increased dentate gyrus size ( J:284750 )

♀ • increased volume

increased hippocampus volume ( J:284750 )

♀

abnormal CNS synapse formation ( J:284750 )

♀ • immature synaptic networks indicated by aberrant synchronicity and elevated spike counts in cultured neurons

Genotype
MGI:6392161

ot2

• Allelic Composition: Iqsec2^em1Csbg/Y
• Genetic Background: C57BL/6NHsd-Iqsec2^em1Csbg

behavior/neurological

sporadic seizures ( J:284750 )

♂ • with a large range in age of onset, severity, and progression

nervous system

sporadic seizures ( J:284750 )

♂ • with a large range in age of onset, severity, and progression

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
non-syndromic X-linked intellectual disability		DOID:0050776	OMIM:300716	J:284750