Mouse Genome Informatics
hm1
    Grin1tm1Stl/Grin1tm1Stl
either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• about 10-20 hours after birth, pups are either thrown out of the nest unattened or are dead inside the nest

behavior/neurological
• do not have milk in stomachs indicating impaired suckling reflexes
• severely ataxic and cannot support body weight on their hindlimbs

homeostasis/metabolism
• cyanosis appeared shortly before death

respiratory system
• observed increased apnea within several hours of birth

nervous system
• absence of barrelettes in the brainstem trigeminal complex
• absent slow NMDA receptor-mediated (sensitive to AP5) postsynaptic currents


Mouse Genome Informatics
cn2
    Emx1tm1(cre)Ito/Emx1+
Grin1tm1Stl/Grin1tm2Stl

involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• thalamocortical afferents corresponding to large whiskers form patterns and display critical period plasticity but their pattering is not as well defined as in controls
• thalamocortical patterns corresponding to sinus hairs and digits are mostly absent
• dendritic fields of spiny stellate cells do not orient toward thalamocortical axon terminal patches, instead they radiate in all directions covering larger territories, exhibiting profuse branching with increased spine density
• cortex thalamocortical axons form smaller patches and individual axon terminal branching is not as well developed as in controls
• septal areas between thalamocortical axon patches are enlarged
• decreased total axonal length, number of branches (by about 50%) and lateral:vertical field span ratio of thalamocortical axons
• barrels and barrel boundaries do not develop even at sites where thalamocortical afferents cluster (J:64064)
• layer IV cells of the somatosensory cortex fail to segregate into barrels (J:80900)
• barrel cortex lacks NMDA receptor-mediated excitation

growth/size/body
• average body weight was about 70% of that of controls at P7
• low growth rate


Mouse Genome Informatics
cx3
    Grin1tm1Stl/Grin1+
Nf1tm1Tyj/Nf1+

involves: 129S2/SvPas * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• spatial learning impairment in Morris Water Maze Test, however normal long term memory in cued fear conditioning test and normal nociception

Mouse Models of Human Disease
OMIM IDRef(s)
Neurofibromatosis, Type I; NF1 162200 J:38703