Phenotypes associated with this allele

• Allele Symbol: Lrfn2^tm1.1Jaru
• Allele Name: targeted mutation 1.1, Jun Aruga
• Allele ID: MGI:5904006
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrfn2^tm1.1Jaru/Lrfn2^tm1.1Jaru	B6.129P2(Cg)-Lrfn2^tm1.1Jaru	MGI:7378350
hm2	Lrfn2^tm1.1Jaru/Lrfn2^tm1.1Jaru	B6J.129P2-Lrfn2^tm1.1Jaru	MGI:5904009

Genotype
MGI:7378350

hm1

• Allelic Composition: Lrfn2^tm1.1Jaru/Lrfn2^tm1.1Jaru
• Genetic Background: B6.129P2(Cg)-Lrfn2^tm1.1Jaru

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

hematopoietic system

abnormal erythropoiesis ( J:301285 )

• in the early and late phases

abnormal bone marrow hematopoietic cell morphology ( J:301285 )

• reduced granulocyte/macrophage colony forming units

decreased erythroid progenitor cell number ( J:301285 )

• marginally decreased

increased erythrocyte cell number ( J:301285 )

• at 6 and 12 months

decreased hematocrit ( J:301285 )

• at 6 and 12 months

increased hemoglobin content ( J:301285 )

• normocytic erythrocythemia at 6 and 12 months

decreased mean corpuscular hemoglobin ( J:301285 )

• slightly at 3 months

decreased leukocyte cell number ( J:301285 )

• at 6 months

decreased granulocyte number ( J:301285 )

• at 6 months

decreased lymphocyte cell number ( J:301285 )

• at 6 months

growth/size/body

decreased body weight ( J:301285 )

• at 10 to 12 months of age

immune system

decreased leukocyte cell number ( J:301285 )

• at 6 months

decreased granulocyte number ( J:301285 )

• at 6 months

decreased lymphocyte cell number ( J:301285 )

• at 6 months

homeostasis/metabolism

decreased circulating erythropoietin level ( J:301285 )

Genotype
MGI:5904009

hm2

• Allelic Composition: Lrfn2^tm1.1Jaru/Lrfn2^tm1.1Jaru
• Genetic Background: B6J.129P2-Lrfn2^tm1.1Jaru

behavior/neurological

enhanced contextual conditioning behavior ( J:241916 )

• in a fear conditioning test, mice show robust freezing behavior associated with contextual fear indicating enhanced contextual fear memory retention

• however, mice do not show abnormalities in olfaction or nocicpetion, locomotion, spontaneous motor activities in home cages, motor coordination, or anxiety-related tasks

enhanced spatial learning ( J:241916 )

• in the Morris water maze test, mice reach the hidden platform faster than wild-type mice in the second probe test indicating enhanced spatial learning

increased freezing behavior ( J:241916 )

• mice show enhanced freezing behavior in a fear conditioning test

increased startle reflex ( J:241916 )

• mice exhibit enhanced startle response to an acoustic stimulus at 120 dB

increased stereotypic behavior ( J:241916 )

• mice exhibit excessive repetitive wheel-running

• mutant mice bury more marbles than wild-type mice, however digging behavior during the reciprocal social interaction test is normal, indicating that increased burying behavior is due to higher sensitivity to marbles

abnormal social investigation ( J:241916 )

• mice show reduced social investigation such as approach and sniffing and less physical contact with a male mouse in reciprocal social interaction test

• mice do not show a preference in terms of either time spent in each chamber or number of contacts with the strangers cage in a 3-chambered social approach test

social withdrawal ( J:241916 )

• mice often hide under bedding material instead of social investigation

• social avoidance behavior such as freezing, escaping, and hiding is increased in time compared to wild-type mice

decreased vocalization ( J:241916 )

♂ • mature males encountering estrous females emit fewer ultrasonic vocalizations -than wild-type males

♂ • however, isolated nursing infants do not show differences from wild-type in ultrasonic vocalizations

growth/size/body

weight loss ( J:241916 )

• mild, 6-9%, body weight loss at 8 weeks of age when mice are housed in a conventional group housing environment of 4-5 mice per cage, with body weight difference starting at 6 weeks of age and becoming obvious at 7-10 weeks

• however, no body weight loss is seen when mice are reared in an isolated housing condition from 3 weeks of age

nervous system

abnormal hippocampus morphology ( J:241916 )

• excitatory postsynaptic protein PSD-95 is decreased and GluN2A is increased in the hippocampus of 8 week old mice

• lower basal synaptic expression of GluA1-containing AMPAR in the hippocampus

abnormal dendritic spine morphology ( J:241916 )

• slight but significant decrease in number of total spine-like protrusions on the apical dendrites of dorsal CA1 neurons

• increase in the number of oddly shaped spines with thin protrusions from the spine heads on the apical dendrites of dorsal CA1 neurons

• mean length of spines is longer on each dorsal CA1 neuron and the mean head width of spines is smaller

abnormal hippocampal pyramidal neuron dendrite morphology ( J:241916 )

• cultured hippocampal neurons show increased total dendritic length and branching complexity

abnormal synapse morphology ( J:241916 )

• the ratio of perforated synapses to total asymmetrical synapses is increased in the CA1 radial layer of the dorsal hippocampus

• synapses are structurally and functionally immature

abnormal postsynaptic density morphology ( J:241916 )

• reduction in postsynaptic density length, wider synaptic clefts and increase in perforated postsynaptic density synapses, however, postsynaptic density thickness is not changed

abnormal synaptic plasticity ( J:241916 )

• synaptic plasticity is enhanced

abnormal CNS synaptic transmission ( J:241916 )

• mice exhibit an increase in silent synapses (excitatory synapses that have become non-functional at normal resting potential) in the hippocampus

abnormal excitatory postsynaptic currents ( J:241916 )

• mice show lower ratio of AMPAR- to NMDAR-mediated excitatory postsynaptic currents of CA1 pyramidal neurons

enhanced long-term potentiation ( J:241916 )

• long term potentiation (LTP) of field excitatory postsynaptic potentials at Schaffer collateral/CA1 synapses is enhanced

• however, no differences are seen for either the paired-pulse or post-tetanic potentiation ratio, indicating that transmitter release is normal

decreased miniature excitatory postsynaptic current frequency ( J:241916 )

• mEPSC frequency is reduced in the hippocampus

decreased prepulse inhibition ( J:241916 )

• prepulse inhibition of the auditory startle response is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:241916