Phenotypes associated with this allele

• Allele Symbol: Pax8^tm1Rdl
• Allele Name: targeted mutation 1, Roberto Di Lauro
• Allele ID: MGI:5299327
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pax8^tm1Rdl/Pax8^+	B6.129-Pax8^tm1Rdl	MGI:5775547
cn2	Pax8^tm1Rdl/Pax8^tm1.1(cre)Mbu	B6.129(Cg)-Pax8^tm1Rdl Pax8^tm1.1(cre)Mbu	MGI:5775543
cn3	Pax8^tm1Rdl/Pax8^tm1.1(cre)Mbu	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5299328

Genotype
MGI:5775547

ht1

• Allelic Composition: Pax8^tm1Rdl/Pax8⁺
• Genetic Background: B6.129-Pax8^tm1Rdl

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

normal phenotype

no abnormal phenotype detected ( J:220108 )

• mice are viable, healthy and born at the expected Mendelian ratio

Genotype
MGI:5775543

cn2

• Allelic Composition: Pax8^tm1Rdl/Pax8^{tm1.1(cre)Mbu}
• Genetic Background: B6.129(Cg)-Pax8^tm1Rdl Pax8^{tm1.1(cre)Mbu}

mortality/aging

premature death ( J:220108 )

• all mice die within 5 weeks of birth

growth/size/body

delayed ear emergence ( J:220108 )

• mice exhibit a delay in ear extension relative to controls

decreased body size ( J:220108 )

• at 1 month of age, mice are smaller than control littermates

decreased body weight ( J:220108 )

• at 1 month of age

vision/eye

delayed eyelid opening ( J:220108 )

• mice exhibit a delay in eyelid opening relative to controls

endocrine/exocrine glands

abnormal thyroid gland morphology ( J:220108 )

• at 1 month of age, the thyroid gland appears as a cellular mass almost devoid of follicles

abnormal thyroid follicle morphology ( J:220108 )

• at 1 month of age, the thyroid gland does not display the follicular structure typical of normal glands

abnormal thyroid follicular cell morphology ( J:220108 )

• at P21, many de-differentiatedthyroid follicular cells are present, unlike in control glands

small thyroid gland ( J:220108 )

• at 1 month of age, the thyroid gland is considerably smaller than in controls

decreased activity of thyroid gland ( J:220108 )

• at 1 month of age, mice exhibit hypothyroidism associated with reduced thyroid function

homeostasis/metabolism

decreased circulating thyroxine level ( J:220108 )

• at 1 month of age, serum T4 levels are almost undetectable

increased circulating thyroid-stimulating hormone level ( J:220108 )

• at 1 month of age, mean serum TSH levels are increased by 4-fold relative to controls

cellular

increased apoptosis ( J:220108 )

• at P1 and P21, mice exhibit scattered caspase-3 positive cells in the thyroid gland, unlike control littermates

craniofacial

delayed ear emergence ( J:220108 )

• mice exhibit a delay in ear extension relative to controls

hearing/vestibular/ear

delayed ear emergence ( J:220108 )

• mice exhibit a delay in ear extension relative to controls

Genotype
MGI:5299328

cn3

• Allelic Composition: Pax8^tm1Rdl/Pax8^{tm1.1(cre)Mbu}
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

cellular

increased apoptosis ( J:178498 )

• in the thyroid gland