Phenotypes associated with this allele

• Allele Symbol: Marcksl1^tm1Stl
• Allele Name: targeted mutation 1, Susumu Tonegawa
• Allele ID: MGI:2176278
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Marcksl1^tm1Stl/Marcksl1^tm1Stl	involves: 129S2/SvPas * C57BL/6	MGI:3846319
ht2	Marcksl1^tm1Stl/Marcksl1^+	involves: 129S2/SvPas * C57BL/6	MGI:3846320

Genotype
MGI:3846319

hm1

• Allelic Composition: Marcksl1^tm1Stl/Marcksl1^tm1Stl
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:32127 )

• significantly fewer homozygotes than expected are present at weaning

• mice surviving to adulthood are healthy

nervous system

abnormal neural tube morphology ( J:32127 )

• 63% of embryos develop neural tube defects

• low numbers of mice show tail flexion

spina bifida ( J:32127 )

abnormal brain morphology ( J:32127 )

hydrocephaly ( J:32127 )

• individuals with hydrocephalus die soon after weaning

decreased brain size ( J:32127 )

• reduced brain size with normal body weight

enlarged brain ventricles ( J:32127 )

• all four ventricles are enlarged

absent corpus callosum ( J:32127 )

• absent in 100% of homozygotes

• dorsomedial Probst bundles of axons that should have comprised the corpus callosum

thin cerebral cortex ( J:32127 )

• thin but all six layers are present

exencephaly ( J:32127 )

• present by E10.5

vision/eye

abnormal retina morphology ( J:32127 )

• thin and compressed

• normal layer structure

decreased total retina thickness ( J:32127 )

reproductive system

abnormal fertility/fecundity ( J:32127 )

• homozygous female at E10.5 with only 3 live embryos, 2 exencephalic

• 5 resorbing embryos as well

embryo

abnormal neural tube morphology ( J:32127 )

• 63% of embryos develop neural tube defects

• low numbers of mice show tail flexion

spina bifida ( J:32127 )

Genotype
MGI:3846320

ht2

• Allelic Composition: Marcksl1^tm1Stl/Marcksl1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

nervous system

abnormal neural tube morphology ( J:32127 )

• 11% of embryos develop neural tube defects

absent corpus callosum ( J:32127 )

• absent in 1 of 9 heterozygotesozygotes

embryo

abnormal neural tube morphology ( J:32127 )

• 11% of embryos develop neural tube defects