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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Del(2Dlx1-Dlx2)1Jlr
deletion, Chr 2, John L R Rubenstein 1
MGI:3586512
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Del(2Dlx1-Dlx2)1Jlr/Del(2Dlx1-Dlx2)1Jlr involves: 129X1/SvJ MGI:3607403


Genotype
MGI:3607403
hm1
Allelic
Composition
Del(2Dlx1-Dlx2)1Jlr/Del(2Dlx1-Dlx2)1Jlr
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(2Dlx1-Dlx2)1Jlr mutation (1 available); any Del(2Dlx1-Dlx2)1Jlr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• the alicochlear commissure is smaller than normal
• 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
• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed
• the pterygoids are rostrally displaced and smaller than normal
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
• the maxillary molars are absent and ectopic cartilage nodules with some bone and connective tissue are seen in their place
• the caudal part of the maxilla is larger than normal
• the palatal processes are absent and the palatine bone is flattened and displaced rostrally
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
• the short process is absent and the incus does not articulate with the stapes
• in all double homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
• the stapes lacks a central hole
• in all double homozygotes the stapes is smaller than normal
• 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
• ectopic cartilage nodules with some bone and connective tissue are seen in place of the maxillary molars
• the incus does not articulate with the stapes

nervous system
• neurons born in the lateral ganglionic eminence before about E12.5 migrate normally but those born after about E12.5 mostly fail to migrate out of the lateral ganglionic eminence
• the periventricular region of the striatum has an accumulation of densely packed, darkly stained cells resembling undifferentiated cells in the lateral ganglionic eminence
• the mutant lateral ganglionic eminence has a lower density of proliferating cells and increased population of partially differentiated neurons
• at E13.5 the total number of Gnrh1 expressing cells in the olfactory epithelium is reduced to 612+/-177 compared to 945+/-62 in wild-type; however, the numbers of these cells that have not yet crossed into the central nervous system is similar to wild type
• at E16.5 double homozygotes have a similar number of septohypothalamic Gnrh1 expressing neurons but most of these are located in the central nervous system unlike in wild-type mice
• at P0 immunoreactivity for markers of GABA neurons is decreased in the olfactory bulb and periglomerular interneurons
• 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

growth/size/body
• the maxillary molars are absent and ectopic cartilage nodules with some bone and connective tissue are seen in their place
• cleft secondary palate is seen in 100% of double homozygotes

cardiovascular system
• the stapedial artery is absent

craniofacial
• the alicochlear commissure is smaller than normal
• 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
• the proximal part of the ala temporalis is largely absent in all homozygotes at E16.5 and P0 and the lateral wing is malformed
• the pterygoids are rostrally displaced and smaller than normal
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
• the maxillary molars are absent and ectopic cartilage nodules with some bone and connective tissue are seen in their place
• the caudal part of the maxilla is larger than normal
• the palatal processes are absent and the palatine bone is flattened and displaced rostrally
• the zygomatic and temporal bones are replaced with 4 bones that develop from independent ossification centers
• the short process is absent and the incus does not articulate with the stapes
• in all double homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
• the stapes lacks a central hole
• in all double homozygotes the stapes is smaller than normal
• cleft secondary palate is seen in 100% of double homozygotes

hearing/vestibular/ear
• the stapedial artery is absent
• the short process is absent and the incus does not articulate with the stapes
• in all double homozygotes the stapes is smaller and lacks a central hole and the styloids lack a connection with the crista parotica of the otic capsule
• the stapes lacks a central hole
• in all double homozygotes the stapes is smaller than normal

digestive/alimentary system
• cleft secondary palate is seen in 100% of double homozygotes

cellular
• neurons born in the lateral ganglionic eminence before about E12.5 migrate normally but those born after about E12.5 mostly fail to migrate out of the lateral ganglionic eminence





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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory