All Phenotypes Hnrnpu<em1Frk> MGI Mouse

growth/size/body

• pups weigh on average 10% less than wild-type pups at birth and growth impairment is further exacerbated through infancy, with mice weighing about 19% less at P12 and this degree of growth impairment persists into adulthood and is more evident for females than males

postnatal growth retardation ( J:342579 )

• growth impairment is further exacerbated through infancy, with mice weighing about 19% less at P12 and this degree of growth impairment persists into adulthood and is more evident for females than males

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:342579 )

• pups show a subtle increase in latency to fall at P6 in the vertical screen test

impaired righting response ( J:342579 )

• pups show a modest impairment in righting reflex at P10, indicating a trend towards delayed sensorimotor function

positive geotaxis ( J:342579 )

• pups show a modest impairment in the 90 degree negative geotaxis at P12

• however, no difference in 180 degree negative geotaxis is seen

decreased vocalization ( J:342579 )

• pups show deficits in separation-induced ultrasonic vocalizations, including a reduction in the number of calls, particularly at P5 and P7, with an atypical trajectory characterized by a slow increase in number of calls that peaks around P9, shorter duration of calls and overall higher frequency compared to control calls

• vocalizations trend towards an increased peak amplitude, with significance at P9

behavioral developmental delay ( J:342579 )

• pups show global developmental delay, with delayed sensorimotor function

maximal tonic hindlimb extension seizures ( J:342579 )

• mice show a lower threshold for induction of maximal tonic hindlimb extension seizures, indicating increased susceptibility to induced seizures

• however, mice show no evidence of spontaneous generalized epileptiform activity, or spontaneous seizure-like behaviors or sudden death during handling

nervous system

nervous system phenotype ( J:342579 )

N	• mice show no overt brain abnormalities, with no differences in brain size, corpus callosum morphology, cortical thickness or hippocampal width

maximal tonic hindlimb extension seizures ( J:342579 )

• mice show a lower threshold for induction of maximal tonic hindlimb extension seizures, indicating increased susceptibility to induced seizures

• however, mice show no evidence of spontaneous generalized epileptiform activity, or spontaneous seizure-like behaviors or sudden death during handling

abnormal brain wave pattern ( J:342579 )

• mice show increased gamma oscillations during wake, but no differences during slow-wave sleep in EEG spectral analysis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 54		DOID:0080418	OMIM:617391	J:342579

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

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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