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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(2Duoxa2-Duoxa1)1Sref
deletion, Chr 2, Samuel Refetoff 1
MGI:5544489
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Del(2Duoxa2-Duoxa1)1Sref/Del(2Duoxa2-Duoxa1)1Sref involves: 129S6/SvEvTac * C57BL/6J MGI:5544587


Genotype
MGI:5544587
hm1
Allelic
Composition
Del(2Duoxa2-Duoxa1)1Sref/Del(2Duoxa2-Duoxa1)1Sref
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• when weaned at P21
• however, some mice survive into adulthood when weaned at P30

endocrine/exocrine glands
• massive hypertrophy and hyperplasia of thyrotrophic cells
• massive resulting in subglottic stenosis
• diffuse and homogeneous with residual small follicles lined by columnar epithelium that frequently form papillary folds protruding into the lumen
• mice lack thyroidal iodide organification

homeostasis/metabolism
• however, L-T4 replacement normalizes levels
• 500-fold in make mice and 2500-fold in female mice in mice fed standard chow or a low iodine diet

skeleton
• impaired linear growth
• however, L-T4 replacement normalizes bone growth

hematopoietic system
• however, L-T4 replacement normalizes spleen weight

growth/size/body
• at 2 weeks
• severe
• however, L-T4 replacement normalizes weight gain

behavior/neurological
• mice fail to invert and climb down when placed on a vertical pole unlike wild-type mice
• bilateral

respiratory system
• at 1 and 3 months, one third of mice develop signs of respiratory distress accompanied by an audible inspiratory stridor, unlike wild-type mice
• at 1 and 3 months, one third of mice develop signs of respiratory distress accompanied by an audible inspiratory stridor, unlike wild-type mice

vision/eye
• 15.5 days instead of 12.2 days for wild-type mice

immune system
• however, L-T4 replacement normalizes spleen weight

limbs/digits/tail
• impaired linear growth
• however, L-T4 replacement normalizes bone growth

nervous system
• massive hypertrophy and hyperplasia of thyrotrophic cells
• when normalized to body weight
• however, L-T4 replacement normalizes brain weight





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory