Phenotypes associated with this allele

• Allele Symbol: Grin1^tm1Stl
• Allele Name: targeted mutation 1, Susumu Tonegawa
• Allele ID: MGI:1928270
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grin1^tm1Stl/Grin1^tm1Stl	either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL/6)	MGI:2175049
cn2	Emx1^tm1(cre)Ito/Emx1^+ Grin1^tm1Stl/Grin1^tm2Stl	involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJae * C57BL/6	MGI:3581525
cx3	Grin1^tm1Stl/Grin1^+ Nf1^tm1Tyj/Nf1^+	involves: 129S2/SvPas * C57BL/6J	MGI:3580057

Genotype
MGI:2175049

hm1

• Allelic Composition: Grin1^tm1Stl/Grin1^tm1Stl
• Genetic Background: either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL/6)

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

mortality/aging

neonatal lethality, complete penetrance ( J:17384 )

• about 10-20 hours after birth, pups are either thrown out of the nest unattened or are dead inside the nest

behavior/neurological

abnormal suckling behavior ( J:17384 )

• do not have milk in stomachs indicating impaired suckling reflexes

ataxia ( J:17384 )

• severely ataxic and cannot support body weight on their hindlimbs

homeostasis/metabolism

cyanosis ( J:17384 )

• cyanosis appeared shortly before death

respiratory system

apnea ( J:17384 )

• observed increased apnea within several hours of birth

nervous system

abnormal brainstem morphology ( J:17384 )

• absence of barrelettes in the brainstem trigeminal complex

absence of NMDA-mediated synaptic currents ( J:17384 )

• absent slow NMDA receptor-mediated (sensitive to AP5) postsynaptic currents

Genotype
MGI:3581525

cn2

• Allelic Composition: Emx1^tm1(cre)Ito/Emx1⁺; Grin1^tm1Stl/Grin1^tm2Stl
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJae * C57BL/6

nervous system

abnormal somatosensory cortex morphology ( J:64064 )

• 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

abnormal primary somatosensory cortex morphology ( J:80900 )

• 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

absent barrels in primary somatosensory cortex ( J:64064 , J:80900 )

• 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)

reduced NMDA receptor mediated synaptic activity in barrel cortex ( J:64064 )

• barrel cortex lacks NMDA receptor-mediated excitation

growth/size/body

decreased body weight ( J:64064 )

• average body weight was about 70% of that of controls at P7

abnormal postnatal growth ( J:64064 )

• low growth rate

Genotype
MGI:3580057

cx3

• Allelic Composition: Grin1^tm1Stl/Grin1⁺; Nf1^tm1Tyj/Nf1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

behavior/neurological

abnormal spatial learning ( J:38703 )

• 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		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:38703