Phenotypes Associated with This Genotype

Genotype
MGI:7579102

• Allelic Composition: Hnrnph2^em1Jpat/Hnrnph2⁺
• Genetic Background: C57BL/6J-Hnrnph2^em1Jpat

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

behavior/neurological

impaired coordination ( J:338313 )

♀ • rotarod performance is impaired

audiogenic seizures ( J:338313 )

♀ • P21 mice exhibit increased susceptibility to audiogenic seizures, with increased incidence and severity of audiogenic seizures

♀ • however, no impairment is seen in optomotor response, hot plate, or scent habituation tests

craniofacial

abnormal craniofacial morphology ( J:338313 )

♀ • females exhibit craniofacial dysmorphology, with a difference in global skull shape based on EDMA

decreased cranium height ( J:338313 )

♀ • reduction in skull length at 6 weeks of age

short maxilla ( J:338313 )

♀

short snout ( J:338313 )

♀ • reduction in nose length at 6 weeks of age

growth/size/body

short snout ( J:338313 )

♀ • reduction in nose length at 6 weeks of age

nervous system

audiogenic seizures ( J:338313 )

♀ • P21 mice exhibit increased susceptibility to audiogenic seizures, with increased incidence and severity of audiogenic seizures

♀ • however, no impairment is seen in optomotor response, hot plate, or scent habituation tests

hydrocephaly ( J:338313 )

♀ • 6-week-old and 24-week-old mice have moderate hydrocephalus, with 30% incidence at 6 weeks and 44% at 24 weeks

skeleton

decreased cranium height ( J:338313 )

♀ • reduction in skull length at 6 weeks of age

short maxilla ( J:338313 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
syndromic X-linked intellectual developmental disorder bain type		DOID:0070538	OMIM:300986	J:338313