Phenotypes associated with this allele

• Allele Symbol: Scn2a^tm1Mml
• Allele Name: targeted mutation 1, Mauricio Montal
• Allele ID: MGI:2180186
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn2a^tm1Mml/Scn2a^tm1Mml	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2181757

Genotype
MGI:2181757

hm1

• Allelic Composition: Scn2a^tm1Mml/Scn2a^tm1Mml
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:76457 )

• by 2 days of age, all homozygotes were dead

behavior/neurological

absent gastric milk in neonates ( J:76457 )

growth/size/body

weight loss ( J:76457 )

• after birth, pups dehydrate and lose weight

hematopoietic system

abnormal hemoglobin ( J:76457 )

• reduced hemoglobin percent saturation

homeostasis/metabolism

cyanosis ( J:76457 )

• pallid appearance and cyanotic

hypoxia ( J:76457 )

respiratory system

respiratory distress ( J:76457 )

• trouble breathing, gasping breaths

nervous system

abnormal brainstem morphology ( J:76457 )

• although the brain is anatomically normal, there is marked neuronal apoptosis in the brainstem

abnormal nervous system electrophysiology ( J:76457 )

• reduced current and G_max in hippocampal neurons