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Phenotypes Associated with This Genotype
Genotype
MGI:6295127
Allelic
Composition
Phf6em1Azbi/Y
Genetic
Background
B6.Cg-Phf6em1Azbi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phf6em1Azbi mutation (0 available); any Phf6 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• slight reduction in body weight
• however, no differences in body mass index, ear length, interocular distance or testis weight are seen
• slight reduction in body length

behavior/neurological
• mice exhibit increased susceptibility to pentylenetetrazol (PTZ)-induced seizures, with mice showing reduced time to reach generalized seizures
• in contextual fear conditioning, mice exhibit reduced freezing levels on day 2 suggesting impaired contextual memory
• however, mice do not exhibit performance deficits during the cued, place, or probe conditions when tested in the Morris water maze, indicating that mice are probably not impaired in spatial learning acquisition or retention
• in a novel object location test, mice spend more time investigating the moved object than the stationary object indicating impaired recognition memory
• mice show reduced ambulatory activity and exploratory behavior during a 1 hour locomotor activity test in the latter part of the test session, indicating a reduced level of attention or interest toward novel environments
• mice exhibit reduced acoustic startle response, however no effects are seen on prepulse inhibition indicting that sensorimotor reactivity but not gating are attenuated
• vertical rearing frequency is reduced
• in a three-chamber social approach task, mice do not show a preference for a novel mouse compared to a familiar mouse, indicating an impairment in social recognition memory
• however, mice display normal levels of sociability

nervous system
• mice exhibit increased susceptibility to pentylenetetrazol (PTZ)-induced seizures, with mice showing reduced time to reach generalized seizures
• layer II stellate neurons in the entorhinal cortex exhibit increased neuronal excitability, with nearly 40% and 90% of the neurons firing action potentials at -53 mV and -50 mV compared to none and 15% of wild-type neurons, respectively
• the number of action potentials fired at -50 mV during a 20 second period is increased and the action potential threshold in a ramp protocol is decreased
• the number of action potentials fired at -50 mV during a 20 second period is increased in stellate neurons in the entorhinal cortex
• in a ramp protocol, stellate neurons in the entorhinal cortex show decreased action potential threshold
• membrane capacitance is decreased and input resistance is increased in stellate neurons
• input resistance normalized to cell capacitance in each neuron is increased, suggesting that alterations in input resistance occur independently of changes in capacitance

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Borjeson-Forssman-Lehmann syndrome DOID:0050681 OMIM:301900
J:271089


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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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory