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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc16a2tm1Dgen
targeted mutation 1, Deltagen
MGI:3710233
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc16a2tm1Dgen/Slc16a2tm1Dgen either: (involves: C57BL/6N) or (involves: NMRI) MGI:3710594
ot2
Slc16a2tm1Dgen/Y either: (involves: C57BL/6N) or (involves: NMRI) MGI:3710595


Genotype
MGI:3710594
hm1
Allelic
Composition
Slc16a2tm1Dgen/Slc16a2tm1Dgen
Genetic
Background
either: (involves: C57BL/6N) or (involves: NMRI)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc16a2tm1Dgen mutation (0 available); any Slc16a2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• cerebellum and cerebrellum T4 content is reduced to 53% and 78%, respectively
• however, clearance from the blood and liver uptake is normal
• 34% reduction in serum T4 levels
• uptake of [125I]T3 in the brain is severely impaired
• cerebellum and cerebrellum T3 content is reduced to 61% and 66%, respectively
• however, clearance from the blood and liver uptake is normal
• 203% increase in serum T3 levels

nervous system
N
• unlike in human patients no reduction in brain size or brain morphology was observed




Genotype
MGI:3710595
ot2
Allelic
Composition
Slc16a2tm1Dgen/Y
Genetic
Background
either: (involves: C57BL/6N) or (involves: NMRI)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc16a2tm1Dgen mutation (0 available); any Slc16a2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• cerebellum and cerebrellum T4 content is reduced to 53% and 78%, respectively
• however, clearance from the blood and liver uptake is normal
• 34% reduction in serum T4 levels
• uptake of [125I]T3 in the brain is severely impaired
• cerebellum and cerebrellum T3 content is reduced to 61% and 66%, respectively
• however, clearance from the blood and liver uptake is normal
• 203% increase in serum T3 levels

nervous system
N
• unlike in human patients no reduction in brain size or brain morphology was observed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Allan-Herndon-Dudley syndrome DOID:0050631 OMIM:300523
J:120737





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory