Phenotypes associated with this allele

• Allele Symbol: Hnrnpu^em1Frk
• Allele Name: endonuclease-mediated mutation 1, Wayne N Frankel
• Allele ID: MGI:7550686
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hnrnpu^em1Frk/Hnrnpu^em1Frk	C57BL/6NJ-Hnrnpu^em1Frk	MGI:7550769
ht2	Hnrnpu^em1Frk/Hnrnpu^+	Not Specified	MGI:7550770

Genotype
MGI:7550769

hm1

• Allelic Composition: Hnrnpu^em1Frk/Hnrnpu^em1Frk
• Genetic Background: C57BL/6NJ-Hnrnpu^em1Frk

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

mortality/aging

prenatal lethality, complete penetrance ( J:342579 )

• no viable homozygous progeny are produced

Genotype
MGI:7550770

ht2

• Allelic Composition: Hnrnpu^em1Frk/Hnrnpu⁺
• Genetic Background: Not Specified

growth/size/body

decreased birth weight ( J:342579 )

• 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