Phenotypes associated with this allele

• Allele Symbol: Dlx2^tm1Jlr
• Allele Name: targeted mutation 1, John L R Rubenstein
• Allele ID: MGI:1857828
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dlx2^tm1Jlr/Dlx2^tm1Jlr	either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * CD-1)	MGI:3607398
hm2	Dlx2^tm1Jlr/Dlx2^tm1Jlr	involves: 129X1/SvJ	MGI:3607400
cx3	Dlx2^tm1Jlr/Dlx2^tm1Jlr Dlx6^tm1Jlr/Dlx6^tm1Jlr	involves: 129X1/SvJ	MGI:3809894

Genotype
MGI:3607398

hm1

• Allelic Composition: Dlx2^tm1Jlr/Dlx2^tm1Jlr
• Genetic Background: either: (involves: 129X1/SvJ) or (involves: 129X1/SvJ * CD-1)

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

mortality/aging

neonatal lethality, complete penetrance ( J:29443 )

behavior/neurological

abnormal suckling behavior ( J:29443 )

• homozygotes do not nurse

abnormal locomotor activation ( J:29443 )

• decreased spontaneous movement

skeleton

abnormal basisphenoid bone morphology ( J:29443 )

• the lateral aspects of the basisphenoid bone are abnormal

• an ectopic cartilaginous structure connects to the basisphenoid bone via an osseous process extending laterocaudally from the basitrabecular process in about 80% of homozygotes

abnormal alisphenoid bone morphology ( J:29443 )

• cartilaginous components of the alisphenoid bone are absent and the lateral wing is malformed

abnormal pterygoid bone morphology ( J:29443 )

• the pterygoids are rostrally displaced, smaller than normal and contact the basitrabecular process and the osseous process that extend laterocaudally from the basitrabecular process

abnormal temporal bone morphology ( J:29443 )

• the zygomatic and temporal bones are replaced with 4 bones that develop at different times (between E15.5 and E16.5) from independent ossification centers

abnormal maxilla morphology ( J:29443 )

• the medial portion of the maxilla is reduced in size

abnormal palatine bone morphology ( J:29443 )

• the caudal aspects of the palatine bone are reduced in size

abnormal zygomatic bone morphology ( J:29443 )

• the zygomatic and temporal bones are replaced with 4 bones that develop at different times (between E15.5 and E16.5) from independent ossification centers

abnormal incus morphology ( J:29443 )

• the short process is absent and the incus does not articulate with the stapes

• in about 50% of mice the incus is fused at the position of the short process to a new elongated cartilage lateral to the basisphenoid bone

absent incus short process ( J:29443 )

abnormal stapes morphology ( J:29443 )

• the stapes lacks a central hole and the styloids lack a connection with the otic capsule

absent stapes obturator foramen ( J:29443 )

ectopic cartilage ( J:29443 )

• a new cartilage is seen that may be continuous or discontinuous and articulates with the maxillary bone, contacts the dermal bones in the temporal wall, and is fused to the incus

• the position and shape of this cartilage suggest it is homologous to the pterygoquadrate, part of the maxillary arch seen in non-mammalian vertebrates

abnormal incudostapedial joint morphology ( J:29443 )

• the incus does not articulate with the stapes

nervous system

abnormal olfactory bulb development ( J:29443 )

• changes in expression of tyrosine hydroxylase but not Dxl1 suggest that while periglomerular cells are present they are in a different state of differentiation or have lost their identity

abnormal facial nerve morphology ( J:29443 )

• ectopic fiber growth is seen

abnormal mandibular nerve branching ( J:29443 )

• as the nerve enters the mandibular arch some fascicles appear to grow toward the lateral surface of the proximal mandibular arch

growth/size/body

cleft secondary palate ( J:29443 )

• cleft secondary palate is seen in about 80% of homozygotes

meteorism ( J:29443 )

• homozygotes accumulate air in the stomach and intestines and display massive distention of the proximal gastrointestinal tract

homeostasis/metabolism

cyanosis ( J:29443 )

digestive/alimentary system

cleft secondary palate ( J:29443 )

• cleft secondary palate is seen in about 80% of homozygotes

intestinal hypoperistalsis ( J:29443 )

• seen in the small intestine

meteorism ( J:29443 )

• homozygotes accumulate air in the stomach and intestines and display massive distention of the proximal gastrointestinal tract

respiratory system

respiratory distress ( J:29443 )

craniofacial

abnormal basisphenoid bone morphology ( J:29443 )

• the lateral aspects of the basisphenoid bone are abnormal

• an ectopic cartilaginous structure connects to the basisphenoid bone via an osseous process extending laterocaudally from the basitrabecular process in about 80% of homozygotes

abnormal alisphenoid bone morphology ( J:29443 )

• cartilaginous components of the alisphenoid bone are absent and the lateral wing is malformed

abnormal pterygoid bone morphology ( J:29443 )

• the pterygoids are rostrally displaced, smaller than normal and contact the basitrabecular process and the osseous process that extend laterocaudally from the basitrabecular process

abnormal temporal bone morphology ( J:29443 )

• the zygomatic and temporal bones are replaced with 4 bones that develop at different times (between E15.5 and E16.5) from independent ossification centers

abnormal maxilla morphology ( J:29443 )

• the medial portion of the maxilla is reduced in size

abnormal palatine bone morphology ( J:29443 )

• the caudal aspects of the palatine bone are reduced in size

abnormal zygomatic bone morphology ( J:29443 )

• the zygomatic and temporal bones are replaced with 4 bones that develop at different times (between E15.5 and E16.5) from independent ossification centers

abnormal incus morphology ( J:29443 )

• the short process is absent and the incus does not articulate with the stapes

• in about 50% of mice the incus is fused at the position of the short process to a new elongated cartilage lateral to the basisphenoid bone

absent incus short process ( J:29443 )

abnormal stapes morphology ( J:29443 )

• the stapes lacks a central hole and the styloids lack a connection with the otic capsule

absent stapes obturator foramen ( J:29443 )

cleft secondary palate ( J:29443 )

• cleft secondary palate is seen in about 80% of homozygotes

hearing/vestibular/ear

abnormal incus morphology ( J:29443 )

• the short process is absent and the incus does not articulate with the stapes

• in about 50% of mice the incus is fused at the position of the short process to a new elongated cartilage lateral to the basisphenoid bone

absent incus short process ( J:29443 )

abnormal stapes morphology ( J:29443 )

• the stapes lacks a central hole and the styloids lack a connection with the otic capsule

absent stapes obturator foramen ( J:29443 )

muscle

intestinal hypoperistalsis ( J:29443 )

• seen in the small intestine

Genotype
MGI:3607400

hm2

• Allelic Composition: Dlx2^tm1Jlr/Dlx2^tm1Jlr
• Genetic Background: involves: 129X1/SvJ

mortality/aging

neonatal lethality ( J:40427 )

skeleton

abnormal cranium morphology ( J:40427 )

• the alicochlear commissure is smaller than normal

abnormal basisphenoid bone morphology ( J:40427 )

• the lateral aspects of the basisphenoid bone are abnormal

• an osseous process extending laterocaudally from the basitrabecular process is seen in about 30% of double homozygotes, in those without this osseous process fibrous tissue is seen in the same location

abnormal alisphenoid bone morphology ( J:40427 )

• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed

small pterygoid bone ( J:40427 )

• the pterygoids are rostrally displaced and smaller than normal

abnormal temporal bone morphology ( J:40427 )

• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers

absent maxillary shelf ( J:40427 )

abnormal palatine bone morphology ( J:40427 )

• the palatal processes are absent and the palatine bone is flattened and displaced rostrally

absent palatine bone horizontal plate ( J:40427 )

abnormal zygomatic bone morphology ( J:40427 )

• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers

abnormal incus morphology ( J:40427 )

• the short process is absent and the incus does not articulate with the stapes

absent incus short process ( J:40427 )

abnormal stapes morphology ( J:40427 )

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

absent stapes obturator foramen ( J:40427 )

• the stapes iacks a central hole

small stapes ( J:40427 )

• in all homozygotes the stapes is smaller than normal

ectopic cartilage ( J:40427 )

• an extensive new area of cartilage is seen lateral to the basisphenoid

• the position and shape of this cartilage suggest it is homologous to the palatopterygoquadrate, part of the maxillary arch seen in non-mammalian vertebrates

abnormal incudostapedial joint morphology ( J:40427 )

• the incus does not articulate with the stapes

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

cardiovascular system

absent stapedial artery ( J:40427 )

• the stapedial artery is absent

muscle

abnormal skeletal muscle morphology ( J:40427 )

• cranial origins of the proximal jaw adductor musculature are abnormal with some having intracranial insertions and many more muscle bellies than normal

• other intracranial muscle fascicles originate from one part and reinsert in another part of the ectopic palatopterygoquadrate cartilage and do not reach the mandible

craniofacial

abnormal cranium morphology ( J:40427 )

• the alicochlear commissure is smaller than normal

abnormal basisphenoid bone morphology ( J:40427 )

• the lateral aspects of the basisphenoid bone are abnormal

• an osseous process extending laterocaudally from the basitrabecular process is seen in about 30% of double homozygotes, in those without this osseous process fibrous tissue is seen in the same location

abnormal alisphenoid bone morphology ( J:40427 )

• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed

small pterygoid bone ( J:40427 )

• the pterygoids are rostrally displaced and smaller than normal

abnormal temporal bone morphology ( J:40427 )

• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers

absent maxillary shelf ( J:40427 )

abnormal palatine bone morphology ( J:40427 )

• the palatal processes are absent and the palatine bone is flattened and displaced rostrally

absent palatine bone horizontal plate ( J:40427 )

abnormal zygomatic bone morphology ( J:40427 )

• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers

abnormal incus morphology ( J:40427 )

• the short process is absent and the incus does not articulate with the stapes

absent incus short process ( J:40427 )

abnormal stapes morphology ( J:40427 )

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

absent stapes obturator foramen ( J:40427 )

• the stapes iacks a central hole

small stapes ( J:40427 )

• in all homozygotes the stapes is smaller than normal

absent palatal shelf ( J:40427 )

cleft secondary palate ( J:40427 )

• cleft secondary palate is seen in about 80% of homozygotes

hearing/vestibular/ear

absent stapedial artery ( J:40427 )

• the stapedial artery is absent

abnormal incus morphology ( J:40427 )

• the short process is absent and the incus does not articulate with the stapes

absent incus short process ( J:40427 )

abnormal stapes morphology ( J:40427 )

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

absent stapes obturator foramen ( J:40427 )

• the stapes iacks a central hole

small stapes ( J:40427 )

• in all homozygotes the stapes is smaller than normal

digestive/alimentary system

absent maxillary shelf ( J:40427 )

absent palatine bone horizontal plate ( J:40427 )

absent palatal shelf ( J:40427 )

cleft secondary palate ( J:40427 )

• cleft secondary palate is seen in about 80% of homozygotes

growth/size/body

absent maxillary shelf ( J:40427 )

absent palatine bone horizontal plate ( J:40427 )

absent palatal shelf ( J:40427 )

cleft secondary palate ( J:40427 )

• cleft secondary palate is seen in about 80% of homozygotes

Genotype
MGI:3809894

cx3

• Allelic Composition: Dlx2^tm1Jlr/Dlx2^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 or 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 or 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