Phenotypes associated with this allele

• Allele Symbol: Foxe1^tm1Rdl
• Allele Name: targeted mutation 1, Roberto Di Lauro
• Allele ID: MGI:2181780
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxe1^tm1Rdl/Foxe1^tm1Rdl	B6.129-Foxe1^tm1Rdl	MGI:3525567
hm2	Foxe1^tm1Rdl/Foxe1^tm1Rdl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3587185
cx3	Foxe1^tm1Rdl/Foxe1^tm1Rdl Nkx2-1^tm1Rdl/Nkx2-1^+	B6.129-Foxe1^tm1Rdl Nkx2-1^tm1Rdl	MGI:3525566

Genotype
MGI:3525567

hm1

• Allelic Composition: Foxe1^tm1Rdl/Foxe1^tm1Rdl
• Genetic Background: B6.129-Foxe1^tm1Rdl

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

endocrine/exocrine glands

abnormal thyroid gland development ( J:95017 )

• the thyroid bud fails to migrate at E10.5

Genotype
MGI:3587185

hm2

• Allelic Composition: Foxe1^tm1Rdl/Foxe1^tm1Rdl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:48970 )

• mice died within 48 hours of birth

endocrine/exocrine glands

abnormal thyroid gland development ( J:48970 )

• at E9.5, the thyroid primordium remains contiguous with the pharyngeal endoderm and does not begin to migrate downward

• at E11.5, half the thyroid cell precursors remain in the position of the primordium and the other half are undetectable

• at E15.5, these unmigrated cells differentiate into a small, ectopic thymus located sublingually

absent thyroid gland ( J:48970 )

• thyroid gland absent from the normal location

craniofacial

palatal shelves fail to meet at midline ( J:48970 )

• palatal shelves are unable to fuse; coronal sections through the palatal region of newborn mutant mice shows that the palatal shelves do not meet at the midline

cleft palate ( J:48970 )

• severe

homeostasis/metabolism

increased circulating thyroid-stimulating hormone level ( J:48970 )

• compensatory elevation of thyroid-stimulating hormone present, indicating normal pituitary response

decreased circulating levels of thyroid hormone ( J:48970 )

• absence of thyroid hormones in the blood

digestive/alimentary system

palatal shelves fail to meet at midline ( J:48970 )

• palatal shelves are unable to fuse; coronal sections through the palatal region of newborn mutant mice shows that the palatal shelves do not meet at the midline

cleft palate ( J:48970 )

• severe

integument

abnormal coat appearance ( J:93410 )

sparse hair ( J:93410 )

• on grafted skin, the hair coat appears sparse and thin

waved hair ( J:93410 )

• on grafted skin, the hair coat appears kinky

abnormal hair shaft morphology ( J:93410 )

• on grafted skin, hairs are kinky, curly, thin and have abnormal septation between cells

• 50% reduction in hair with 3-5 cell layers, increase in single cell layers

increased curvature of hairs ( J:93410 )

• on grafted skin, hairs have a distinct C- or S-shaped curvature

abnormal hair follicle orientation ( J:93410 )

• on grafted skin, hair follicles are misaligned and smaller than controls

• differentiation and proliferation of grafted skin is normal

growth/size/body

palatal shelves fail to meet at midline ( J:48970 )

• palatal shelves are unable to fuse; coronal sections through the palatal region of newborn mutant mice shows that the palatal shelves do not meet at the midline

cleft palate ( J:48970 )

• severe

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bamforth-Lazarus syndrome		DOID:0050655	OMIM:241850	J:48970 , J:93410
congenital hypothyroidism		DOID:0050328	OMIM:PS275200	J:48970

Genotype
MGI:3525566

cx3

• Allelic Composition: Foxe1^tm1Rdl/Foxe1^tm1Rdl; Nkx2-1^tm1Rdl/Nkx2-1⁺
• Genetic Background: B6.129-Foxe1^tm1Rdl Nkx2-1^tm1Rdl

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:95017 )

N • thyroid bud migration is normal unlike in Foxe1^tm1Rdl single homozygotes