Phenotypes Associated with This Genotype

Genotype
MGI:2677316

• Allelic Composition: Eya1^tm1Rilm/Eya1^tm1Rilm
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

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

mortality/aging

neonatal lethality, complete penetrance ( J:57313 )

• all homozygotes die at birth

craniofacial

abnormal cranium morphology ( J:57313 )

abnormal basisphenoid bone morphology ( J:57313 )

small cranium ( J:57313 )

abnormal pterygoid process morphology ( J:57313 )

abnormal hyoid bone morphology ( J:57313 )

• hyoid bone is malformed

abnormal hyoid bone lesser horn morphology ( J:57313 )

• lesser horns are malformed

abnormal jaw morphology ( J:57313 )

mandible hypoplasia ( J:57313 )

decreased maxillary shelf size ( J:57313 )

absent premaxilla ( J:57313 )

absent maxilla ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal zygomatic bone morphology ( J:57313 )

abnormal middle ear ossicle morphology ( J:57313 )

abnormal incus morphology ( J:57313 )

• the incus is present but malformed

absent malleus processus brevis ( J:57313 )

• the short process of the malleus is usually absent

absent stapes ( J:57313 )

• the stapes is usually absent

fusion of middle ear ossicles ( J:57313 )

• middle ear ossicles are frequently fused

abnormal palate development ( J:57313 )

• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen

preauricular pit ( J:57313 )

• preauricular pits are seen

cleft secondary palate ( J:57313 )

• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

large nasal septum ( J:57313 )

• enlarged nasal septum

abnormal external auditory canal morphology ( J:57313 )

• the external auditory meati are absent or when present end blindly

absent external auditory canal ( J:57313 )

• atresia of the external auditory canal is seen

absent outer ear ( J:57313 )

anotia ( J:57313 )

• the auricles are missing or malformed

endocrine/exocrine glands

persistent ultimobranchial bodies ( J:79848 )

• unilateral or bilateral persistence of ultimobranchial bodies outside the thyroid gland is seen at E15.5

absent parathyroid glands ( J:57313 )

athymia ( J:57313 , J:79848 )

• organ primordia for the thymus are not seen at E12.0 (J:79848)

absent thyroid gland isthmus ( J:79848 )

• some mutants lack an isthmus in the thyroid gland

thyroid gland hypoplasia ( J:79848 )

• hypoplastic thyroid lobes with fewer calcitonin producing cells are seen

hearing/vestibular/ear

increased otic epithelial cell apoptosis ( J:57313 )

abnormal middle ear ossicle morphology ( J:57313 )

abnormal incus morphology ( J:57313 )

• the incus is present but malformed

absent malleus processus brevis ( J:57313 )

• the short process of the malleus is usually absent

absent stapes ( J:57313 )

• the stapes is usually absent

fusion of middle ear ossicles ( J:57313 )

• middle ear ossicles are frequently fused

abnormal external auditory canal morphology ( J:57313 )

• the external auditory meati are absent or when present end blindly

absent external auditory canal ( J:57313 )

• atresia of the external auditory canal is seen

absent outer ear ( J:57313 )

anotia ( J:57313 )

• the auricles are missing or malformed

absent auditory bulla ( J:57313 )

• tympanic bulla is absent

abnormal otic vesicle development ( J:57313 )

• the otic vesicle from which inner ear structures arise fails to form, associated with increased apoptosis

absent endolymphatic duct ( J:57313 )

• the endolymphatic duct is absent or malformed

absent inner ear ( J:57313 )

absent tympanic cavity ( J:57313 )

• the tympanic cavity does not form

abnormal tympanic membrane morphology ( J:57313 )

• the eardrums are malformed

decreased tympanic ring size ( J:57313 )

immune system

athymia ( J:57313 , J:79848 )

• organ primordia for the thymus are not seen at E12.0 (J:79848)

renal/urinary system

increased metanephric mesenchyme apoptosis ( J:57313 )

• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5

absent kidney ( J:57313 )

• bilateral kidney agenesis is seen in all homozygotes

absent ureter ( J:57313 )

• ureters are absent in all homozygotes due to failure of ureteric bud outgrowth and metanephric induction

absent ureteric bud ( J:57313 )

• the ureteric bud fails to form

skeleton

abnormal cranium morphology ( J:57313 )

abnormal basisphenoid bone morphology ( J:57313 )

small cranium ( J:57313 )

abnormal pterygoid process morphology ( J:57313 )

abnormal hyoid bone morphology ( J:57313 )

• hyoid bone is malformed

abnormal hyoid bone lesser horn morphology ( J:57313 )

• lesser horns are malformed

abnormal jaw morphology ( J:57313 )

mandible hypoplasia ( J:57313 )

decreased maxillary shelf size ( J:57313 )

absent premaxilla ( J:57313 )

absent maxilla ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal zygomatic bone morphology ( J:57313 )

abnormal middle ear ossicle morphology ( J:57313 )

abnormal incus morphology ( J:57313 )

• the incus is present but malformed

absent malleus processus brevis ( J:57313 )

• the short process of the malleus is usually absent

absent stapes ( J:57313 )

• the stapes is usually absent

fusion of middle ear ossicles ( J:57313 )

• middle ear ossicles are frequently fused

abnormal thyroid cartilage morphology ( J:57313 )

• lateral processes of the thyroid cartilage, which normally connect with the cricoid cartilage, are absent or malformed

abnormal sternocostal joint morphology ( J:57313 )

• T7 ribs do not fuse with the sternum

abnormal ischium morphology ( J:57313 )

• the ischium and pubis are fused at E18.5

abnormal pubis morphology ( J:57313 )

• the ischium and pubis are fused at E18.5

rib fusion ( J:57313 )

• ribs are fused bilaterally

cervical vertebral fusion ( J:57313 )

• the mutant atlas and axis are fused

vision/eye

eyelids open at birth ( J:57313 )

nervous system

abnormal geniculate ganglion morphology ( J:57313 )

• the geniculate ganglion is absent

absent petrosal ganglion ( J:57313 )

absent vestibular ganglion ( J:57313 )

embryo

increased metanephric mesenchyme apoptosis ( J:57313 )

• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5

abnormal first pharyngeal pouch morphology ( J:57313 )

• a persistent cleft of the first pharyngeal pouch is seen at E10.5

persistent ultimobranchial bodies ( J:79848 )

• unilateral or bilateral persistence of ultimobranchial bodies outside the thyroid gland is seen at E15.5

hematopoietic system

athymia ( J:57313 , J:79848 )

• organ primordia for the thymus are not seen at E12.0 (J:79848)

digestive/alimentary system

decreased maxillary shelf size ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal palate development ( J:57313 )

• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen

cleft secondary palate ( J:57313 )

• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

respiratory system

large nasal septum ( J:57313 )

• enlarged nasal septum

abnormal thyroid cartilage morphology ( J:57313 )

• lateral processes of the thyroid cartilage, which normally connect with the cricoid cartilage, are absent or malformed

cellular

increased metanephric mesenchyme apoptosis ( J:57313 )

• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5

increased otic epithelial cell apoptosis ( J:57313 )

growth/size/body

decreased maxillary shelf size ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal palate development ( J:57313 )

• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen

preauricular pit ( J:57313 )

• preauricular pits are seen

cleft secondary palate ( J:57313 )

• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

large nasal septum ( J:57313 )

• enlarged nasal septum

abnormal external auditory canal morphology ( J:57313 )

• the external auditory meati are absent or when present end blindly

absent external auditory canal ( J:57313 )

• atresia of the external auditory canal is seen

absent outer ear ( J:57313 )

anotia ( J:57313 )

• the auricles are missing or malformed

microcephaly ( J:57313 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
branchiootorenal syndrome		DOID:14702		J:57313