Phenotypes associated with this allele

• Allele Symbol: Grin1^tm1.1Phs
• Allele Name: targeted mutation 1.1, Peter H Seeburg
• Allele ID: MGI:2178082
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grin1^tm1.1Phs/Grin1^tm1.1Phs	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3845915
ht2	Grin1^tm1.1Phs/Grin1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3845916
ht3	Grin1^tm1Cur/Grin1^tm1.1Phs	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3845918

Genotype
MGI:3845915

hm1

• Allelic Composition: Grin1^tm1.1Phs/Grin1^tm1.1Phs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:75497 )

• death within the first hour after birth

• survival up to 10 hours if the temperature is raised to 37C and high humidity is maintained

homeostasis/metabolism

cyanosis ( J:75497 )

behavior/neurological

aphagia ( J:75497 )

• pups do not nurse

absent gastric milk in neonates ( J:75497 )

respiratory system

abnormal breathing pattern ( J:75497 )

• breathing improves if the temperature is raised to 37C and high humidity is maintained

• irregular breathing pattern

respiratory distress ( J:75497 )

• gasp for air

nervous system

nervous system phenotype ( J:75497 )

N • in hippocampal CA1 pyrimadal neurons, NMDA receptor mean current amplitudes are not different from controls

abnormal nervous system electrophysiology ( J:75497 )

• Ca2+ permeability of NMDA receptors is decreased 4 fold

abnormal NMDA-mediated synaptic currents ( J:75497 )

• the voltage dependence of NMDA receptors is altered

• an Mg2+ block is enhanced at depolarizing potentials and incomplete at resting potentials

• under Mg2+ conditions, Ca2+ induces a strong and voltage-dependent block

Genotype
MGI:3845916

ht2

• Allelic Composition: Grin1^tm1.1Phs/Grin1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:75497 )

• higher than normal mortality over the first year of life

behavior/neurological

hyperactivity ( J:75497 )

♀ • pregnant females become hyperactive before delivery

abnormal social/conspecific interaction behavior ( J:75497 )

abnormal maternal nurturing ( J:75497 )

♀ • litters are typically underfed and die or are killed within 2 days

abnormal maternal grooming ( J:75497 )

♀ • mothers fail to clean pups

absent maternal crouching ( J:75497 )

♀ • mothers fail to crouch over newborn pups

abnormal pup retrieval ( J:75497 )

♀ • mothers fail to retrieve pups

pup cannibalization ( J:75497 )

♀ • mothers turn aggressive toward the newborn

♀ • newborn pups display bruises and bites and are sometimes cannibalized

abnormal nest building behavior ( J:75497 )

• after delivery, mothers perform poorly on nest building task

Genotype
MGI:3845918

ht3

• Allelic Composition: Grin1^tm1Cur/Grin1^tm1.1Phs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:75497 )

homeostasis/metabolism

cyanosis ( J:75497 )

behavior/neurological

aphagia ( J:75497 )

absent gastric milk in neonates ( J:75497 )

respiratory system

abnormal breathing pattern ( J:75497 )

abnormal pulmonary respiratory rate ( J:75497 )

respiratory distress ( J:75497 )

nervous system

absence of NMDA-mediated synaptic currents ( J:75497 )

• currents are not detectable in hippocampal CA1 pyramidal cells