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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prrx2tm1Hubr
targeted mutation 1, Hubrecht Institute
MGI:1857641
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Prrx2tm1Hubr/Prrx2tm1Hubr involves: 129P2/OlaHsd * FVB MGI:3698247
cx2
Prrx1tm1Tex/Prrx1tm1Tex
Prrx2tm1Hubr/Prrx2tm1Hubr
involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB MGI:2168063
cx3
Prrx1tm1Tex/Prrx1+
Prrx2tm1Hubr/Prrx2tm1Hubr
involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB MGI:3698248
cx4
Prrx1tm1Tex/Prrx1tm1Tex
Prrx2tm1Hubr/Prrx2+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB MGI:3698249


Genotype
MGI:3698247
hm1
Allelic
Composition
Prrx2tm1Hubr/Prrx2tm1Hubr
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx2tm1Hubr mutation (0 available); any Prrx2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes are fertile and healthy, with a normal life span and no detectable skeletal or inner ear abnormalities




Genotype
MGI:2168063
cx2
Allelic
Composition
Prrx1tm1Tex/Prrx1tm1Tex
Prrx2tm1Hubr/Prrx2tm1Hubr
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx1tm1Tex mutation (0 available); any Prrx1 mutation (5 available)
Prrx2tm1Hubr mutation (0 available); any Prrx2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• in contrast to Prrx1tm1Tex homozygotes which live up to 24 hrs, double homozygotes die within 1 hr after birth

respiratory system

skeleton
• the lateral wall of the skull is composed of a sheet of ectopic cartilage, as squamosal and zygomatic bones are absent
• the oval window is displaced medially
• the entire zygomatic arch is absent
• the styloid process is abnormally fused to the hyoid bone
• mandibular incisors are either absent (38%) or a single median incisor is observed (42%)
• in contrast, molars appear unaffected
• in some cases, a rudimentary second incisor is observed (12%)
• at E18.5, ~8% of double homozygotes show a cleft mandible and tongue
• dentaries are shortened and their distal tips fused
• at E12.5, the lower jaw is much shorter than normal
• the malar (zygomatic) process of the maxilla is absent
• severely reduced lower jaw
• malformed malleus, with an ectopic process immediately distal from the malleus
• the stylohyoid ligament is chondrified and connects the stapes and the styloid process to the lesser horn of the hyoid bone; as a result, the stapes is displaced
• most of Meckel's cartilage is absent; only the distal tip and a small proximal part is present
• tarsal bones are fused with a variable pattern
• the triangular, which articulates with the ulna and the carpal bones, is laterally truncated, and the pisiform is fused to the ulna
• the tibial diaphysis bulges out and forms a cap of bone under which the proximal and distal epiphyseal cartilages are connected
• an ectopic cartilaginous element is seen between the first and second metarsal in the hindfoot
• in newborns, the zone of pre- and hypertrophic cartilage cells are severely shorterned in the zeugopods
• ~60% of newborn double homozygotes show partial or complete absence of the spine of the scapula
• the extent of this defect is often variable between left and right sides of the same animal, and is first evident at E13.5
• a hole is noted in the xyphoid process of the sternum
• the pubic symphysis is absent, resulting in a gap between the pubic bones
• all double homozygotes show absence of the dorsal processes of thoracic vertebrae
• all double homozygotes show absence of the dorsal processes of the cervical atlas
• all double homozygotes show absence of the dorsal processes of the cervical axis
• all double homozygotes show absence of the dorsal processes of lumbar vertebrae
• neural arches spread out laterally
• the dorsal processes of the thoracic, lumbar and cervical vertebrae are absent
• the lateral wall of the skull is composed of a sheet of ectopic cartilage, as squamosal and zygomatic bones are absent
• an ectopic cartilaginous element is seen between the first and second metarsal in the hindfoot
• the entire stylohyoid ligament is chondrified, and connects the stapes and the styloid process to the lesser horn of the hyoid bone
• delayed ossification of the radius and tibia

limbs/digits/tail
• the first digit of the forefoot is broader and its phalanges are thinned centrally
• an extra digit is observed on the posterior side of the forefoot and is often thinner than other digits
• the morphology of the extra digit ranges from a fragment of a metacarpal to a complete metacarpal with two phalages
• the metacarpal of the extra digit articulates with the triangular and the ulna
• tarsal bones are fused with a variable pattern
• downward pointing of forelimbs
• neonatal forelimb zeugopods are severely shortened, with their cartilaginous precursors already shortened and thickened at E13.5
• the triangular, which articulates with the ulna and the carpal bones, is laterally truncated, and the pisiform is fused to the ulna
• neonatal hindlimb zeugopods are severely shortened, with their cartilaginous precursors already shortened and thickened at E13.5
• the tibial diaphysis bulges out and forms a cap of bone under which the proximal and distal epiphyseal cartilages are connected
• an ectopic cartilaginous element is seen between the first and second metarsal in the hindfoot

craniofacial
• the lateral wall of the skull is composed of a sheet of ectopic cartilage, as squamosal and zygomatic bones are absent
• the oval window is displaced medially
• the entire zygomatic arch is absent
• the styloid process is abnormally fused to the hyoid bone
• mandibular incisors are either absent (38%) or a single median incisor is observed (42%)
• in contrast, molars appear unaffected
• in some cases, a rudimentary second incisor is observed (12%)
• at E18.5, ~8% of double homozygotes show a cleft mandible and tongue
• dentaries are shortened and their distal tips fused
• at E12.5, the lower jaw is much shorter than normal
• the malar (zygomatic) process of the maxilla is absent
• severely reduced lower jaw
• malformed malleus, with an ectopic process immediately distal from the malleus
• the stylohyoid ligament is chondrified and connects the stapes and the styloid process to the lesser horn of the hyoid bone; as a result, the stapes is displaced
• most of Meckel's cartilage is absent; only the distal tip and a small proximal part is present
• tongue inserts through the cleft palate into the nasal cavity, obstructing the airway
• absence of external ears
• an ectopic crescent-shaped cartilaginous element is found in the remnant of the auricle

hearing/vestibular/ear
• the oval window is displaced medially
• malformed malleus, with an ectopic process immediately distal from the malleus
• the stylohyoid ligament is chondrified and connects the stapes and the styloid process to the lesser horn of the hyoid bone; as a result, the stapes is displaced
• absence of external ears
• an ectopic crescent-shaped cartilaginous element is found in the remnant of the auricle
• only a remnant of the lateral duct found in a small cavity in the otic capsule is observed
• in newborns, the entire otic capsule is reduced due to reduced outgrowth of the ducts of the membranous labyrinth

homeostasis/metabolism
• newborn double homozygotes are cyanotic, indicating lack of oxygen

digestive/alimentary system
• tongue inserts through the cleft palate into the nasal cavity, obstructing the airway

nervous system
• all double homozygotes exhibit spina bifida, as neural arches spread out laterally

embryo
• all double homozygotes exhibit spina bifida, as neural arches spread out laterally

growth/size/body
• mandibular incisors are either absent (38%) or a single median incisor is observed (42%)
• in contrast, molars appear unaffected
• in some cases, a rudimentary second incisor is observed (12%)
• tongue inserts through the cleft palate into the nasal cavity, obstructing the airway
• absence of external ears
• an ectopic crescent-shaped cartilaginous element is found in the remnant of the auricle




Genotype
MGI:3698248
cx3
Allelic
Composition
Prrx1tm1Tex/Prrx1+
Prrx2tm1Hubr/Prrx2tm1Hubr
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx1tm1Tex mutation (0 available); any Prrx1 mutation (5 available)
Prrx2tm1Hubr mutation (0 available); any Prrx2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• ~80% of newborns die within 24 hrs
• surviving newborns reach adulthood and appear healthy while most of their offspring survive with no problems

respiratory system
• ~80% of newborns show respiratory problems

growth/size/body
• ~80% of newborns display a cleft secondary palate
• ~80% of newborns display abdominal distension

craniofacial
• ~80% of newborns display a cleft secondary palate

digestive/alimentary system
• ~80% of newborns display a cleft secondary palate

skeleton
• the stylohyoid ligament is chondrified




Genotype
MGI:3698249
cx4
Allelic
Composition
Prrx1tm1Tex/Prrx1tm1Tex
Prrx2tm1Hubr/Prrx2+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx1tm1Tex mutation (0 available); any Prrx1 mutation (5 available)
Prrx2tm1Hubr mutation (0 available); any Prrx2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• newborns exhibit closely spaced incisors
• newborns exhibit shortened dentaries
• at E14.5, Meckel's cartilage is truncated

skeleton
• newborns exhibit closely spaced incisors
• newborns exhibit shortened dentaries
• at E14.5, Meckel's cartilage is truncated
• the base of the metacarpal of the fifth digit is broader and forms an articulation with the trinagular and ulna

growth/size/body
• newborns exhibit closely spaced incisors

limbs/digits/tail
• the base of the metacarpal of the fifth digit is broader and forms an articulation with the trinagular and ulna





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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory