Phenotypes associated with this allele

• Allele Symbol: Slc2a1^tm1Dcdv
• Allele Name: targeted mutation 1, Darryl C De Vivo
• Allele ID: MGI:3624543
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc2a1^tm1Dcdv/Slc2a1^tm1Dcdv	involves: 129S6/SvEvTac * C57BL/6J	MGI:3624844
ht2	Slc2a1^tm1Dcdv/Slc2a1^+	involves: 129S6/SvEvTac * C57BL/6J	MGI:3624845

Genotype
MGI:3624844

hm1

• Allelic Composition: Slc2a1^tm1Dcdv/Slc2a1^tm1Dcdv
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:108250 )

• no homozygotes are identified at birth; loss of homozygous embryos occurs between E10 and E14

embryo

abnormal rostral-caudal axis patterning ( J:108250 )

• at E13, homozygous embryos exhibit a diminutive rostral embryonic pole

embryonic growth retardation ( J:108250 )

• at E13, homozygous embryos display overall developmental delay

decreased embryo size ( J:108250 )

• at E13, homozygous embryos are smaller than heterozygotes and wild-type littermates

vision/eye

anophthalmia ( J:108250 )

• at E13, homozygous embryos lack visibly detectable eyes

growth/size/body

embryonic growth retardation ( J:108250 )

• at E13, homozygous embryos display overall developmental delay

decreased embryo size ( J:108250 )

• at E13, homozygous embryos are smaller than heterozygotes and wild-type littermates

Genotype
MGI:3624845

ht2

• Allelic Composition: Slc2a1^tm1Dcdv/Slc2a1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

homeostasis/metabolism

decreased cerebrospinal fluid glucose level ( J:108250 )

• glucose levels in CSF of heterozygous mice are lower than those in wild-type controls (26.3 mg/dl vs 74.6 mg/dl)

cellular

decreased cellular glucose uptake ( J:108250 )

• cerebral glucose uptake is decreased compared to wild-type controls

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:108250 )

• abnormal motor performance in heterozygotes can be seen as early as 4-5 weeks of age and worsens with time (22 weeks of age)

impaired coordination ( J:108250 )

• significant differences are observed between heterozygotes and wild-type animals with respect to motor performance at 14, 18 and 22 weeks of age; heterozygotes 20-30 weeks of age show significant impairments in beam walking compared to wild-type

sporadic seizures ( J:108250 )

• heterozygous mice show multiple spontaneous seizures while being observed in free movement

nervous system

sporadic seizures ( J:108250 )

• heterozygous mice show multiple spontaneous seizures while being observed in free movement

decreased cerebrospinal fluid glucose level ( J:108250 )

• glucose levels in CSF of heterozygous mice are lower than those in wild-type controls (26.3 mg/dl vs 74.6 mg/dl)

decreased brain weight ( J:108250 )

• brains from 18-22 week old heterozygotes (394 mg) weigh less than brains of wild-type controls (417 mg)