Phenotypes associated with this allele

• Allele Symbol: Gys1^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432767
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gys1^tm1a(EUCOMM)Wtsi/Gys1^tm1a(EUCOMM)Wtsi	involves: C57BL/6J * C57BL/6NTac	MGI:5695768
hm2	Gys1^tm1a(EUCOMM)Wtsi/Gys1^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:7254853

Genotype
MGI:5695768

hm1

• Allelic Composition: Gys1^{tm1a(EUCOMM)Wtsi}/Gys1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6NTac

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:216806 )

• homozygotes exhibit high perinatal lethality

• however, surviving homozygotes show normal morphological development

nervous system

nervous system phenotype ( J:216806 )

N • at 16 months of age, surviving homozygotes lack formation of PAS-positive polyglucosan bodies (PGBs) in the brain, unlike age-matched wild-type controls which accumulate PAS- and muscle glycogen synthase (MGS)-positive PGBs in the hippocampus, cerebellum, and piriform cortex

N • neither polyglucosan (PG) markers nor, as expected, MGS accumulates in any aged mutant brain region, unlike in aged wild-type brains

N • no accumulation of laforin, stress-related markers (such as ubiquitin, heat-shock protein HSP70, and advanced glycation end products), alpha-synuclein, or parvalbumin (PV)-containing aggregates is observed, unlike in aged wild-type brains

Genotype
MGI:7254853

hm2

• Allelic Composition: Gys1^{tm1a(EUCOMM)Wtsi}/Gys1^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

homeostasis/metabolism

decreased lung glycogen level ( J:300001 )

• lungs are devoid of glycogen

respiratory system

abnormal lung morphology ( J:300001 )

• lungs show reduced expression of mature SP-B and SP-C proteins in embryonic lungs

• however, lungs do not show any morphological alteration at E14.5 or E18.5

decreased lung glycogen level ( J:300001 )

• lungs are devoid of glycogen