Phenotypes Associated with This Genotype

Genotype
MGI:4459458

• Allelic Composition: Eda^Ta/Y
• Genetic Background: Not Specified

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

craniofacial

abnormal nose morphology ( J:249 )

♂

abnormal nasal cavity morphology ( J:249 )

♂ • accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology ( J:237227 )

♂ • medial nasal glands are completely absent

♂ • however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally

abnormal lateral nasal gland morphology ( J:237227 )

♂ • only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

♂ • branching of lateral nasal gland 3 is defective at a more rostral location

endocrine/exocrine glands

abnormal nasal gland morphology ( J:237227 )

♂ • medial nasal glands are completely absent

♂ • however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally

abnormal lateral nasal gland morphology ( J:237227 )

♂ • only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

♂ • branching of lateral nasal gland 3 is defective at a more rostral location

limbs/digits/tail

hairless tail ( J:249 )

♂ • devoid or nearly devoid of hair

kinked tail ( J:249 )

♂ • usually a few sharp kinks are seen at the tip

pigmentation

abnormal coat/hair pigmentation ( J:249 )

♂

absent hair follicle pheomelanosome pheomelanin ( J:249 )

♂ • absence of agouti-banding on dorsal hair results in a dark stripe in that region

abnormal skin pigmentation ( J:249 )

♂ • noteably delayed

respiratory system

abnormal nose morphology ( J:249 )

♂

abnormal nasal cavity morphology ( J:249 )

♂ • accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology ( J:237227 )

♂ • medial nasal glands are completely absent

♂ • however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally

abnormal lateral nasal gland morphology ( J:237227 )

♂ • only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

♂ • branching of lateral nasal gland 3 is defective at a more rostral location

vision/eye

narrow eye opening ( J:249 )

♂

integument

abnormal coat/ hair morphology ( J:249 )

♂

abnormal coat/hair pigmentation ( J:249 )

♂

absent hair follicle pheomelanosome pheomelanin ( J:249 )

♂ • absence of agouti-banding on dorsal hair results in a dark stripe in that region

abnormal hair growth ( J:249 )

♂ • hair does not develop behind the ears and on the tail

abnormal hair texture ( J:249 )

♂ • due to the absence of guard-hairs and zig-zag hairs

absent guard hair ( J:249 )

♂

absent zigzag hairs ( J:249 )

♂

abnormal hair follicle development ( J:249 )

♂ • E14-17 embryos lack the complement of prominent hair follicles for this age

abnormal vibrissa number ( J:249 )

♂ • the post-orbital vibrissa is absent

♂ • usually there is one rather than two supra-orbital vibrissae

abnormal skin pigmentation ( J:249 )

♂ • noteably delayed

abnormal tail ring morphology ( J:249 )

♂ • devoid or nearly devoid of tail rings

thin skin ( J:249 )

♂ • noted a few days after birth

growth/size/body

abnormal nose morphology ( J:249 )

♂

abnormal nasal cavity morphology ( J:249 )

♂ • accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology ( J:237227 )

♂ • medial nasal glands are completely absent

♂ • however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally

abnormal lateral nasal gland morphology ( J:237227 )

♂ • only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

♂ • branching of lateral nasal gland 3 is defective at a more rostral location

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypohidrotic ectodermal dysplasia		DOID:14793		J:237227