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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Celf4tm1.2Frk
targeted mutation 1.2, Wayne N Frankel
MGI:5425630
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Celf4tm1.2Frk/Celf4tm1.2Frk 129S1.129(Cg)-Celf4tm1.2Frk/Frk MGI:6194330
hm2
 		Celf4tm1.2Frk/Celf4tm1.2Frk B6.129(Cg)-Celf4tm1.2Frk/Frk MGI:6194390
hm3
 		Celf4tm1.2Frk/Celf4tm1.2Frk (B6.129(Cg)-Celf4tm1.2Frk/Frk x 129S1.129(Cg)-Celf4tm1.2Frk/Frk)F1 MGI:6194355
ht4
 		Celf4tm1.2Frk/Celf4+ 129S1.129(Cg)-Celf4tm1.2Frk/Frk MGI:6194351


Genotype
MGI:6194330
hm1
Allelic
Composition		 Celf4tm1.2Frk/Celf4tm1.2Frk
Genetic
Background		 129S1.129(Cg)-Celf4tm1.2Frk/Frk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celf4tm1.2Frk mutation (0 available); any Celf4 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tonic-clonic seizures ( J:181678 )
• Background Sensitivity: as early as 87 days of age homozygotes begin having tonic-clonic seizures either spontaneously or as a result of routine handling, and 46% develop convulsive seizures by 175 days of age
abnormal spike wave discharge ( J:181678 )
• Background Sensitivity: absence seizures indicated by spike wave discharge in the EEG are identified in homozygotes on the 129S1 background and the B6 x 129 hybrid background

growth/size/body
decreased body size ( J:181678 )
• Background Sensitivity: homozygotes on the 129S1 background are usually smaller than wild-type or heterozygous siblings, yet have increased viability relative to those on the C57BL/6J congenic background

nervous system
tonic-clonic seizures ( J:181678 )
• Background Sensitivity: as early as 87 days of age homozygotes begin having tonic-clonic seizures either spontaneously or as a result of routine handling, and 46% develop convulsive seizures by 175 days of age
abnormal spike wave discharge ( J:181678 )
• Background Sensitivity: absence seizures indicated by spike wave discharge in the EEG are identified in homozygotes on the 129S1 background and the B6 x 129 hybrid background
abnormal miniature excitatory postsynaptic currents ( J:181678 )
• whole-cell patch-clamp recordings at the soma of layer V pyramidal neurons of the visual cortex, assessed between 14 and 21 days of age, show that the frequency and amplitude of mEPSCs is increased relative to wildtype controls, but no change in mEPSC kinetics and no abnormalities in mIPSCs

mortality/aging
postnatal lethality, incomplete penetrance ( J:181678 )
• Background Sensitivity: at wean age, only 18% of pups from heterozygous intercrosses are homozygotes, which is less severe than that found in C57BL/6J congenic homozygotes




Genotype
MGI:6194390
hm2
Allelic
Composition		 Celf4tm1.2Frk/Celf4tm1.2Frk
Genetic
Background		 B6.129(Cg)-Celf4tm1.2Frk/Frk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celf4tm1.2Frk mutation (0 available); any Celf4 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tonic-clonic seizures ( J:181678 )
• Background Sensitivity: homozygotes on a C57BL/6J congenic background have a more severe convulsive phenotype than those on the 129S1 background, with tonic-clonic seizures occurring as early as 21 days of age and 71% developing seizures by 90 days of age

mortality/aging
postnatal lethality, incomplete penetrance ( J:181678 )
• Background Sensitivity: only 7.5% of pups from heterozygous intercrosses survive to wean age

nervous system
tonic-clonic seizures ( J:181678 )
• Background Sensitivity: homozygotes on a C57BL/6J congenic background have a more severe convulsive phenotype than those on the 129S1 background, with tonic-clonic seizures occurring as early as 21 days of age and 71% developing seizures by 90 days of age




Genotype
MGI:6194355
hm3
Allelic
Composition		 Celf4tm1.2Frk/Celf4tm1.2Frk
Genetic
Background		 (B6.129(Cg)-Celf4tm1.2Frk/Frk x 129S1.129(Cg)-Celf4tm1.2Frk/Frk)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celf4tm1.2Frk mutation (0 available); any Celf4 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
absence seizures ( J:181678 )
• absence seizures evident by spike wave discharge in electroencephalogram recordings

nervous system
absence seizures ( J:181678 )
• absence seizures evident by spike wave discharge in electroencephalogram recordings




Genotype
MGI:6194351
ht4
Allelic
Composition		 Celf4tm1.2Frk/Celf4+
Genetic
Background		 129S1.129(Cg)-Celf4tm1.2Frk/Frk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celf4tm1.2Frk mutation (0 available); any Celf4 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
tonic-clonic seizures ( J:181678 )
• heterozygotes also display tonic-clonic grand mal-like seizures that are spontaneous or incited by routine handling

nervous system
tonic-clonic seizures ( J:181678 )
• heterozygotes also display tonic-clonic grand mal-like seizures that are spontaneous or incited by routine handling




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory