Phenotypes associated with this allele

• Allele Symbol: Ednra^tm1Hku
• Allele Name: targeted mutation 1, Hiroki Kurihara
• Allele ID: MGI:3773699
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ednra^tm1Hku/Ednra^tm1Hku	involves: 129 * C57BL/6 * ICR	MGI:3796521
ht2	Ednra^tm1Hku/Ednra^tm2.1Hku	involves: 129 * C57BL/6 * ICR	MGI:3796524
ht3	Ednra^tm1Hku/Ednra^tm3(Ednrb)Hku	involves: 129 * C57BL/6 * ICR	MGI:3796529

Genotype
MGI:3796521

hm1

• Allelic Composition: Ednra^tm1Hku/Ednra^tm1Hku
• Genetic Background: involves: 129 * C57BL/6 * ICR

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

mortality/aging

perinatal lethality, complete penetrance ( J:131382 )

growth/size/body

abnormal alveolar process morphology ( J:131382 )

• alveolar bone is formed around small rostral process of Meckel's cartilage and surrounds a lower incisor; growth is variable amongst mutants

craniofacial

abnormal basisphenoid bone morphology ( J:131382 )

short styloid process ( J:131382 )

• styloid process is truncated

abnormal alisphenoid bone morphology ( J:131382 )

• greater wing of sphenoid bone (ala temporalis) and lamina obturans are duplicated

abnormal pterygoid process morphology ( J:131382 )

• duplicated in mutants

abnormal temporal bone zygomatic process morphology ( J:131382 )

• zygomatic processes of squamosal are malformed and often absent at E18.5

absent temporal bone zygomatic process ( J:131382 )

• often absent at E18.5

abnormal hyoid bone morphology ( J:131382 )

• hyoid is aberrantly ossified and fused bilaterally to basisphenoid in all mutants

• strut connecting stapes to hyoid is transformed lesser horn of hyoid fused to hyoid body and stretched to the lateral side

abnormal alveolar process morphology ( J:131382 )

• alveolar bone is formed around small rostral process of Meckel's cartilage and surrounds a lower incisor; growth is variable amongst mutants

lower jaw to upper jaw transformation ( J:131382 )

• mandibular arch-derived structures are transformed into maxillary arch-derived elements

• lower jaw is mirror image of upper jaw with arrays of vibrissae at E18.5

• most of dentary (lower jaw) is replaced by an ectopic bone, appearing as a mirror image duplication of the ipsilateral maxilla; morphology is almost same as wild-type maxillae

abnormal palatine bone morphology ( J:131382 )

• second set of jugal and palatine bone is observed

abnormal zygomatic bone morphology ( J:131382 )

• second set of jugal and palatine bone is observed at E18.5

• zygomatic processes of squamosal are malformed and often absent

abnormal malleus morphology ( J:131382 )

• malformed, with incus, giving rise to ectopic structure extending to the squamosal

absent gonial bone ( J:131382 )

• gonial bone is lost

abnormal stapes morphology ( J:131382 )

• stapes is displaced out of fenestra ovalis and is connected to hyoid through a cartilaginous strut

skeleton

abnormal basisphenoid bone morphology ( J:131382 )

short styloid process ( J:131382 )

• styloid process is truncated

abnormal alisphenoid bone morphology ( J:131382 )

• greater wing of sphenoid bone (ala temporalis) and lamina obturans are duplicated

abnormal pterygoid process morphology ( J:131382 )

• duplicated in mutants

abnormal temporal bone zygomatic process morphology ( J:131382 )

• zygomatic processes of squamosal are malformed and often absent at E18.5

absent temporal bone zygomatic process ( J:131382 )

• often absent at E18.5

abnormal hyoid bone morphology ( J:131382 )

• hyoid is aberrantly ossified and fused bilaterally to basisphenoid in all mutants

• strut connecting stapes to hyoid is transformed lesser horn of hyoid fused to hyoid body and stretched to the lateral side

abnormal alveolar process morphology ( J:131382 )

• alveolar bone is formed around small rostral process of Meckel's cartilage and surrounds a lower incisor; growth is variable amongst mutants

lower jaw to upper jaw transformation ( J:131382 )

• mandibular arch-derived structures are transformed into maxillary arch-derived elements

• lower jaw is mirror image of upper jaw with arrays of vibrissae at E18.5

• most of dentary (lower jaw) is replaced by an ectopic bone, appearing as a mirror image duplication of the ipsilateral maxilla; morphology is almost same as wild-type maxillae

abnormal palatine bone morphology ( J:131382 )

• second set of jugal and palatine bone is observed

abnormal zygomatic bone morphology ( J:131382 )

• second set of jugal and palatine bone is observed at E18.5

• zygomatic processes of squamosal are malformed and often absent

abnormal malleus morphology ( J:131382 )

• malformed, with incus, giving rise to ectopic structure extending to the squamosal

absent gonial bone ( J:131382 )

• gonial bone is lost

abnormal stapes morphology ( J:131382 )

• stapes is displaced out of fenestra ovalis and is connected to hyoid through a cartilaginous strut

hearing/vestibular/ear

abnormal malleus morphology ( J:131382 )

• malformed, with incus, giving rise to ectopic structure extending to the squamosal

absent gonial bone ( J:131382 )

• gonial bone is lost

abnormal stapes morphology ( J:131382 )

• stapes is displaced out of fenestra ovalis and is connected to hyoid through a cartilaginous strut

absent tympanic ring ( J:131382 )

• ectotympanic bone is lost

Genotype
MGI:3796524

ht2

• Allelic Composition: Ednra^tm1Hku/Ednra^tm2.1Hku
• Genetic Background: involves: 129 * C57BL/6 * ICR

mortality/aging

perinatal lethality, complete penetrance ( J:131382 )

Genotype
MGI:3796529

ht3

• Allelic Composition: Ednra^tm1Hku/Ednra^{tm3(Ednrb)Hku}
• Genetic Background: involves: 129 * C57BL/6 * ICR

mortality/aging

perinatal lethality, complete penetrance ( J:131382 )

• animals die at birth