Phenotypes associated with this allele

• Allele Symbol: Dlx1^tm1Jlr
• Allele Name: targeted mutation 1, John L R Rubenstein
• Allele ID: MGI:1857826
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dlx1^tm1Jlr/Dlx1^tm1Jlr	involves: 129X1/SvJ	MGI:3607399
hm2	Dlx1^tm1Jlr/Dlx1^tm1Jlr	involves: 129X1/SvJ * C57BL/6J * CD-1	MGI:3701138
cx3	Dlx1^tm1Jlr/Dlx1^tm1Jlr Dlx6^tm1Jlr/Dlx6^tm1Jlr	involves: 129X1/SvJ	MGI:3809893

Genotype
MGI:3607399

hm1

• Allelic Composition: Dlx1^tm1Jlr/Dlx1^tm1Jlr
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

premature death ( J:40427 )

• homozygotes die within 1 month of birth

craniofacial

abnormal stapes morphology ( J:40427 )

• in about 50% of homozygotes the stapes is smaller and lacks a central hole while the styloids lack a connection with the crista parotica of the otic capsule

absent stapes obturator foramen ( J:40427 )

• the stapes lacks a central hole in about 50% of homozygotes

small stapes ( J:40427 )

• the stapes is smaller in about 50% of homozygotes

cleft palate ( J:40427 )

• in about 10% of homozygotes a small cleft is present

hearing/vestibular/ear

absent stapedial artery ( J:40427 )

• the stapedial artery is absent in those homozygotes where the stapes lacks a central hole

abnormal stapes morphology ( J:40427 )

• in about 50% of homozygotes the stapes is smaller and lacks a central hole while the styloids lack a connection with the crista parotica of the otic capsule

absent stapes obturator foramen ( J:40427 )

• the stapes lacks a central hole in about 50% of homozygotes

small stapes ( J:40427 )

• the stapes is smaller in about 50% of homozygotes

cardiovascular system

absent stapedial artery ( J:40427 )

• the stapedial artery is absent in those homozygotes where the stapes lacks a central hole

growth/size/body

cleft palate ( J:40427 )

• in about 10% of homozygotes a small cleft is present

decreased body size ( J:40427 )

nervous system

abnormal facial nerve morphology ( J:40427 )

• the proximal parasympathetic branch to the maxillary region runs medially over the dorsum of the cochlear promontory leaving the cranial cavity via the carotid foramen rather than being entirely extracranial

skeleton

abnormal stapes morphology ( J:40427 )

• in about 50% of homozygotes the stapes is smaller and lacks a central hole while the styloids lack a connection with the crista parotica of the otic capsule

absent stapes obturator foramen ( J:40427 )

• the stapes lacks a central hole in about 50% of homozygotes

small stapes ( J:40427 )

• the stapes is smaller in about 50% of homozygotes

digestive/alimentary system

cleft palate ( J:40427 )

• in about 10% of homozygotes a small cleft is present

Genotype
MGI:3701138

hm2

• Allelic Composition: Dlx1^tm1Jlr/Dlx1^tm1Jlr
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CD-1

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:108265 )

• at 7-8 weeks of age, homozygotes display significantly elevated ABR thresholds for frequencies less than 32 kHz relative to wild-type mice

conductive hearing loss ( J:108265 )

• at 7-8 weeks of age, homozygotes exhibit a severe peripheral hearing loss that is attributed to middle ear dysfunction

Genotype
MGI:3809893

cx3

• Allelic Composition: Dlx1^tm1Jlr/Dlx1^tm1Jlr; Dlx6^tm1Jlr/Dlx6^tm1Jlr
• Genetic Background: involves: 129X1/SvJ

craniofacial

abnormal cranium morphology ( J:139700 )

• the ventrolateral side of the skull exhibits a duplicate lamina obturans beside the endogenous one

abnormal pterygoid bone morphology ( J:139700 )

• unlike in wild-type mice, dentaries are shortened, fragmented and bifurcated to become bones resembling the maxilla, jugal and pterygoid

abnormal hyoid bone morphology ( J:139700 )

• mice exhibit an abnormal basihyoid and lesser horn of the hyoid

abnormal hyoid bone body morphology ( J:139700 )

abnormal hyoid bone lesser horn morphology ( J:139700 )

abnormal mandible morphology ( J:139700 )

• unlike in wild-type mice, dentaries are shortened, fragmented and bifurcated to become bones resembling the maxilla, jugal and pterygoid

abnormal zygomatic bone morphology ( J:139700 )

• unlike in wild-type mice, dentaries are shortened, fragmented and bifurcated to become bones resembling the maxilla, jugal and pterygoid

hearing/vestibular/ear

absent tympanic ring ( J:139700 )

• the ectotympanic is reduced or lost

decreased tympanic ring size ( J:139700 )

• the ectotympanic is reduced or lost

skeleton

abnormal cranium morphology ( J:139700 )

• the ventrolateral side of the skull exhibits a duplicate lamina obturans beside the endogenous one

abnormal pterygoid bone morphology ( J:139700 )

• unlike in wild-type mice, dentaries are shortened, fragmented and bifurcated to become bones resembling the maxilla, jugal and pterygoid

abnormal hyoid bone morphology ( J:139700 )

• mice exhibit an abnormal basihyoid and lesser horn of the hyoid

abnormal hyoid bone body morphology ( J:139700 )

abnormal hyoid bone lesser horn morphology ( J:139700 )

abnormal mandible morphology ( J:139700 )

• unlike in wild-type mice, dentaries are shortened, fragmented and bifurcated to become bones resembling the maxilla, jugal and pterygoid

abnormal zygomatic bone morphology ( J:139700 )

• unlike in wild-type mice, dentaries are shortened, fragmented and bifurcated to become bones resembling the maxilla, jugal and pterygoid