All Phenotypes Prrx1<tm1Tex> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prrx1^tm1Tex/Prrx1^tm1Tex	involves: 129S7/SvEvBrd	MGI:3687153
ht2	Prrx1^tm1Jfm/Prrx1^tm1Tex	involves: 129S4/SvJaeSor * 129S7/SvEvBrd	MGI:3687308
cx3	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Hubr/Prrx2^tm1Hubr	involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB	MGI:2168063
cx4	Prrx1^tm1Tex/Prrx1⁺ Prrx2^tm1Hubr/Prrx2^tm1Hubr	involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB	MGI:3698248
cx5	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Hubr/Prrx2⁺	involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB	MGI:3698249
cx6	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Mjk/Prrx2^tm1Mjk	involves: 129S7/SvEvBrd	MGI:3687317
cx7	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Mjk/Prrx2^tm1Mjk	involves: 129S7/SvEvBrd * C57BL/6	MGI:2167059
cx8	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Mjk/Prrx2⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:3687269

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

mortality/aging

neonatal lethality, complete penetrance ( J:25649 , J:50488 , J:60507 )

• live up to 24 hrs after birth (J:50488)

• live only a few hours after birth (J:60507)

respiratory system

respiratory distress ( J:25649 )

• exhibit respiratory compromise as evidenced by gasping motions and cyanosis

behavior/neurological

aphagia ( J:25649 )

• never feed and develop abdominal distension due to inflation of the digestive tract with air

growth/size/body

absent maxillary shelf ( J:25649 )

• the palatal processes of the maxillary bones are missing

maxillary shelf hypoplasia ( J:50488 , J:51596 )

• the palatal processes of the maxillary bones are hypoplastic (J:50488)

• the palatal process of the maxilla is reduced (J:51596)

absent palatine bone horizontal plate ( J:25649 )

• the palatal processes of the palatal bones are missing

abnormal palatal shelf fusion at midline ( J:25649 )

• unfused palatal shelves in mutant mice at birth

cleft secondary palate ( J:25649 , J:50488 )

• large cleft of the secondary palate (J:25649)

pointed snout ( J:25649 )

lowered ear position ( J:25649 )

microcephaly ( J:25649 )

distended abdomen ( J:25649 )

• abdomen is distended due to inflation of the digestive tract with air

homeostasis/metabolism

cyanosis ( J:25649 )

nervous system

spina bifida ( J:25649 , J:50488 )

skeleton

absent supraoccipital bone ( J:25649 )

• absent in neonates

• the tectum posteriorus, the cartilaginous precursor of the supraoccipital bone, is absent at E13.5

absent alisphenoid bone ( J:25649 )

• the ascending lamina of the alisphenoid bone is absent

• the ala temporalis, a cartilaginous structure that gives rise to the alisphenoid bone, is absent at E13.5

alisphenoid bone hypoplasia ( J:25649 )

• the ala temporalis, a cartilaginous structure that gives rise to the alisphenoid bone, is hypoplastic at E14.5

pterygoid bone hypoplasia ( J:25649 )

• at the base of the skull, the pterygoid bone is hypoplastic

absent temporal bone squamous part ( J:25649 , J:50488 )

• only a remnant of the squamosal bone is seen (J:25649)

abnormal mandible morphology ( J:25649 )

• the dentary component of the mandible is shortened, however the alveolar processes and tooth buds are unaffected

absent temporomandibular joint ( J:25649 )

• the temporomandibular joint is absent due to the absence of the squamosal and alisphenoid bones

mandible hypoplasia ( J:25649 )

• the coronoid, condylar, and angular processes of the mandible are hypoplastic

absent maxillary shelf ( J:25649 )

• the palatal processes of the maxillary bones are missing

maxillary shelf hypoplasia ( J:50488 , J:51596 )

• the palatal processes of the maxillary bones are hypoplastic (J:50488)

• the palatal process of the maxilla is reduced (J:51596)

absent palatine bone horizontal plate ( J:25649 )

• the palatal processes of the palatal bones are missing

absent zygomatic bone ( J:25649 , J:50488 )

abnormal middle ear ossicle morphology ( J:25649 )

abnormal incus morphology ( J:25649 )

• the incus remains fused to a persistant quadrate cartilage on the lateral aspect of the skull and does not articulate with the stapes

abnormal malleus morphology ( J:25649 , J:50488 )

• rostral to the mallear head, observe an additional cartilaginous process at E14.5 (J:25649)

absent gonial bone ( J:25649 )

• gonial bone is absent

abnormal malleus manubrium morphology ( J:25649 )

• the manubrium of the malleus is truncated

short malleus manubrium ( J:25649 )

abnormal malleus processus brevis morphology ( J:25649 )

• the processus brevis is displaced

abnormal stapes morphology ( J:25649 )

• the stapes is columelliform and remains fused to Reichert's cartilage

abnormal stapes crus morpholgy ( J:25649 )

• the anterior and posterior crus are fused, obliterating the foramen through which the stapedial artery normally passes

absent stapes obturator foramen ( J:25649 )

abnormal long bone morphology ( J:25649 )

• cartilaginous precursors of the affected long bones at E13.5 are bowed and foreshortened

bowed radius ( J:25649 )

short radius ( J:25649 )

• the ossified shafts of the radius are abnormally shortened and broader

short ulna ( J:25649 )

• the ossified shafts of the ulna are abnormally shortened and broader

short fibula ( J:25649 )

• fibula is truncated

abnormal tibia morphology ( J:25649 )

bowed tibia ( J:25649 )

short tibia ( J:25649 )

• tibia is truncated

abnormal metacarpal bone morphology ( J:50488 )

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

abnormal vertebrae morphology ( J:50488 )

• all homozygotes exhbit vertebral defects, including absence of the dorsal processes of the thoracic and lumbar veterbrae, ad spinal bifida

abnormal thoracic vertebrae morphology ( J:25649 )

• about 12% show abnormal thoracic vertebrae, with abnormally shaped neural arches that flare laterally and truncated dorsal cartilage

abnormal cartilage morphology ( J:25649 )

• abnormal formation of cartilage in the skull results in a trabeculated appearance

• cartilaginous precursors of the supraoccipital bone (tectum posteriorus) and the alisphenoid bone (ala temporalis) and the parietal cartilage and the developing occipital arch are deficient at E14.5

abnormal Meckel's cartilage morphology ( J:25649 , J:51596 )

• Meckel's cartilage remains unfused and has a sigmoidal morphology at E13.5, however it does fuse one day later but remains morphologically abnormal (J:25649)

• Meckel's cartilage exhibits an ectopic process (J:25649)

abnormal incudostapedial joint morphology ( J:25649 )

• the incus does not articulate with the stapes

abnormal stylohyoid ligament morphology ( J:50488 )

• the stylohyoid ligament is incompletely formed, as part of it develops as a cartilaginous element

delayed bone ossification ( J:25649 )

• diaphyseal ossification center is delayed in the limbs

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:25649 )

abnormal incus morphology ( J:25649 )

• the incus remains fused to a persistant quadrate cartilage on the lateral aspect of the skull and does not articulate with the stapes

abnormal malleus morphology ( J:25649 , J:50488 )

• rostral to the mallear head, observe an additional cartilaginous process at E14.5 (J:25649)

absent gonial bone ( J:25649 )

• gonial bone is absent

abnormal malleus manubrium morphology ( J:25649 )

• the manubrium of the malleus is truncated

short malleus manubrium ( J:25649 )

abnormal malleus processus brevis morphology ( J:25649 )

• the processus brevis is displaced

abnormal stapes morphology ( J:25649 )

• the stapes is columelliform and remains fused to Reichert's cartilage

abnormal stapes crus morpholgy ( J:25649 )

• the anterior and posterior crus are fused, obliterating the foramen through which the stapedial artery normally passes

absent stapes obturator foramen ( J:25649 )

lowered ear position ( J:25649 )

small otic capsule ( J:50488 )

• slight reduction in the size of the otic capsule

absent tympanic ring ( J:25649 )

craniofacial

abnormal Meckel's cartilage morphology ( J:25649 , J:51596 )

• Meckel's cartilage remains unfused and has a sigmoidal morphology at E13.5, however it does fuse one day later but remains morphologically abnormal (J:25649)

• Meckel's cartilage exhibits an ectopic process (J:25649)

absent supraoccipital bone ( J:25649 )

• absent in neonates

• the tectum posteriorus, the cartilaginous precursor of the supraoccipital bone, is absent at E13.5

absent alisphenoid bone ( J:25649 )

• the ascending lamina of the alisphenoid bone is absent

• the ala temporalis, a cartilaginous structure that gives rise to the alisphenoid bone, is absent at E13.5

alisphenoid bone hypoplasia ( J:25649 )

• the ala temporalis, a cartilaginous structure that gives rise to the alisphenoid bone, is hypoplastic at E14.5

pterygoid bone hypoplasia ( J:25649 )

• at the base of the skull, the pterygoid bone is hypoplastic

absent temporal bone squamous part ( J:25649 , J:50488 )

• only a remnant of the squamosal bone is seen (J:25649)

abnormal mandible morphology ( J:25649 )

• the dentary component of the mandible is shortened, however the alveolar processes and tooth buds are unaffected

absent temporomandibular joint ( J:25649 )

• the temporomandibular joint is absent due to the absence of the squamosal and alisphenoid bones

mandible hypoplasia ( J:25649 )

• the coronoid, condylar, and angular processes of the mandible are hypoplastic

absent maxillary shelf ( J:25649 )

• the palatal processes of the maxillary bones are missing

maxillary shelf hypoplasia ( J:50488 , J:51596 )

• the palatal processes of the maxillary bones are hypoplastic (J:50488)

• the palatal process of the maxilla is reduced (J:51596)

absent palatine bone horizontal plate ( J:25649 )

• the palatal processes of the palatal bones are missing

absent zygomatic bone ( J:25649 , J:50488 )

abnormal middle ear ossicle morphology ( J:25649 )

abnormal incus morphology ( J:25649 )

• the incus remains fused to a persistant quadrate cartilage on the lateral aspect of the skull and does not articulate with the stapes

abnormal malleus morphology ( J:25649 , J:50488 )

• rostral to the mallear head, observe an additional cartilaginous process at E14.5 (J:25649)

absent gonial bone ( J:25649 )

• gonial bone is absent

abnormal malleus manubrium morphology ( J:25649 )

• the manubrium of the malleus is truncated

short malleus manubrium ( J:25649 )

abnormal malleus processus brevis morphology ( J:25649 )

• the processus brevis is displaced

abnormal stapes morphology ( J:25649 )

• the stapes is columelliform and remains fused to Reichert's cartilage

abnormal stapes crus morpholgy ( J:25649 )

• the anterior and posterior crus are fused, obliterating the foramen through which the stapedial artery normally passes

absent stapes obturator foramen ( J:25649 )

abnormal palatal shelf fusion at midline ( J:25649 )

• unfused palatal shelves in mutant mice at birth

cleft secondary palate ( J:25649 , J:50488 )

• large cleft of the secondary palate (J:25649)

pointed snout ( J:25649 )

lowered ear position ( J:25649 )

limbs/digits/tail

abnormal forelimb zeugopod morphology ( J:50488 )

• shortened zeugopods of forelimbs

bowed radius ( J:25649 )

short radius ( J:25649 )

• the ossified shafts of the radius are abnormally shortened and broader

short ulna ( J:25649 )

• the ossified shafts of the ulna are abnormally shortened and broader

abnormal hindlimb zeugopod morphology ( J:50488 )

• shortened zeugopods of hindlimbs

short fibula ( J:25649 )

• fibula is truncated

abnormal tibia morphology ( J:25649 )

bowed tibia ( J:25649 )

short tibia ( J:25649 )

• tibia is truncated

abnormal metacarpal bone morphology ( J:50488 )

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

cardiovascular system

abnormal artery morphology ( J:60507 )

abnormal pulmonary trunk morphology ( J:60507 )

• abnormal positioning of the pulmonary trunk

abnormal aortic arch morphology ( J:60507 )

• exhibit abnormal positioning and awkward curvature of the aortic arch

abnormal fetal ductus arteriosus morphology ( J:60507 )

• exhibit a misdirected and elongated ductus arterious

digestive/alimentary system

absent maxillary shelf ( J:25649 )

• the palatal processes of the maxillary bones are missing

maxillary shelf hypoplasia ( J:50488 , J:51596 )

• the palatal processes of the maxillary bones are hypoplastic (J:50488)

• the palatal process of the maxilla is reduced (J:51596)

absent palatine bone horizontal plate ( J:25649 )

• the palatal processes of the palatal bones are missing

abnormal palatal shelf fusion at midline ( J:25649 )

• unfused palatal shelves in mutant mice at birth

cleft secondary palate ( J:25649 , J:50488 )

• large cleft of the secondary palate (J:25649)

embryo

spina bifida ( J:25649 , J:50488 )

Allelic Composition	Prrx1^tm1Jfm/Prrx1^tm1Tex
Genetic Background	involves: 129S4/SvJaeSor * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx1^tm1Jfm mutation (1 available); any Prrx1 mutation (31 available)
Prrx1^tm1Tex mutation (0 available); any Prrx1 mutation (31 available)

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

mortality/aging

neonatal lethality ( J:51596 )

• phenotype is stated to be a phenocopy of the single Prrx1^tm1Tex homozygotes, however no data is presented in J:51596

craniofacial

abnormal cranium morphology ( J:51596 )

skeleton

abnormal cranium morphology ( J:51596 )

abnormal long bone morphology ( J:51596 )

respiratory system

abnormal respiration ( J:51596 )

Allelic Composition	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Hubr/Prrx2^tm1Hubr
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx1^tm1Tex mutation (0 available); any Prrx1 mutation (31 available)
Prrx2^tm1Hubr mutation (0 available); any Prrx2 mutation (11 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:50488 )

• in contrast to Prrx1^tm1Tex homozygotes which live up to 24 hrs, double homozygotes die within 1 hr after birth

respiratory system

respiratory distress ( J:50488 )

skeleton

abnormal cranium morphology ( J:50488 )

• the lateral wall of the skull is composed of a sheet of ectopic cartilage, as squamosal and zygomatic bones are absent

abnormal oval window morphology ( J:50488 )

• the oval window is displaced medially

absent Meckel's cartilage ( J:50488 )

• most of Meckel's cartilage is absent; only the distal tip and a small proximal part is present

absent temporal bone squamous part ( J:50488 )

absent zygomatic arch ( J:50488 )

• the entire zygomatic arch is absent

abnormal hyoid bone morphology ( J:50488 )

• the styloid process is abnormally fused to the hyoid bone

absent incisors ( J:50488 )

• 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%)

abnormal mandible morphology ( J:50488 )

• at E18.5, ~8% of double homozygotes show a cleft mandible and tongue

• dentaries are shortened and their distal tips fused

short mandible ( J:50488 )

• at E12.5, the lower jaw is much shorter than normal

absent maxillary shelf ( J:50488 )

absent maxillary zygomatic process ( J:50488 )

• the malar (zygomatic) process of the maxilla is absent

micrognathia ( J:50488 )

• severely reduced lower jaw

absent zygomatic bone ( J:50488 )

abnormal malleus morphology ( J:50488 )

• malformed malleus, with an ectopic process immediately distal from the malleus

abnormal stapes morphology ( J:50488 )

• 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

fused tarsal bones ( J:50488 )

• tarsal bones are fused with a variable pattern

bowed radius ( J:50488 )

abnormal ulna morphology ( J:50488 )

• the triangular, which articulates with the ulna and the carpal bones, is laterally truncated, and the pisiform is fused to the ulna

bowed ulna ( J:50488 )

abnormal tibia morphology ( J:50488 )

• the tibial diaphysis bulges out and forms a cap of bone under which the proximal and distal epiphyseal cartilages are connected

abnormal metatarsal bone morphology ( J:50488 )

• an ectopic cartilaginous element is seen between the first and second metarsal in the hindfoot

decreased width of hypertrophic chondrocyte zone ( J:50488 )

• in newborns, the zone of pre- and hypertrophic cartilage cells are severely shorterned in the zeugopods

abnormal scapular spine morphology ( J:50488 )

• ~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

xiphoid process foramen ( J:50488 )

• a hole is noted in the xyphoid process of the sternum

absent pubic symphysis ( J:50488 )

• the pubic symphysis is absent, resulting in a gap between the pubic bones

abnormal thoracic vertebrae morphology ( J:50488 )

• all double homozygotes show absence of the dorsal processes of thoracic vertebrae

abnormal cervical atlas morphology ( J:50488 )

• all double homozygotes show absence of the dorsal processes of the cervical atlas

abnormal cervical axis morphology ( J:50488 )

• all double homozygotes show absence of the dorsal processes of the cervical axis

abnormal lumbar vertebrae morphology ( J:50488 )

• all double homozygotes show absence of the dorsal processes of lumbar vertebrae

abnormal vertebral arch morphology ( J:50488 )

• neural arches spread out laterally

absent vertebral arch ( J:50488 )

• the dorsal processes of the thoracic, lumbar and cervical vertebrae are absent

ectopic cartilage ( J:50488 )

• 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

abnormal stylohyoid ligament morphology ( J:50488 )

• the entire stylohyoid ligament is chondrified, and connects the stapes and the styloid process to the lesser horn of the hyoid bone

delayed bone ossification ( J:50488 )

• delayed ossification of the radius and tibia

limbs/digits/tail

abnormal digit morphology ( J:50488 )

• the first digit of the forefoot is broader and its phalanges are thinned centrally

polydactyly ( J:50488 )

• 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

fused tarsal bones ( J:50488 )

• tarsal bones are fused with a variable pattern

abnormal forelimb morphology ( J:50488 )

• downward pointing of forelimbs

abnormal forelimb zeugopod morphology ( J:50488 )

• neonatal forelimb zeugopods are severely shortened, with their cartilaginous precursors already shortened and thickened at E13.5

bowed radius ( J:50488 )

abnormal ulna morphology ( J:50488 )

• the triangular, which articulates with the ulna and the carpal bones, is laterally truncated, and the pisiform is fused to the ulna

bowed ulna ( J:50488 )

abnormal hindlimb zeugopod morphology ( J:50488 )

• neonatal hindlimb zeugopods are severely shortened, with their cartilaginous precursors already shortened and thickened at E13.5

abnormal tibia morphology ( J:50488 )

• the tibial diaphysis bulges out and forms a cap of bone under which the proximal and distal epiphyseal cartilages are connected

abnormal metatarsal bone morphology ( J:50488 )

• an ectopic cartilaginous element is seen between the first and second metarsal in the hindfoot

craniofacial

abnormal cranium morphology ( J:50488 )

• the lateral wall of the skull is composed of a sheet of ectopic cartilage, as squamosal and zygomatic bones are absent

abnormal oval window morphology ( J:50488 )

• the oval window is displaced medially

absent Meckel's cartilage ( J:50488 )

• most of Meckel's cartilage is absent; only the distal tip and a small proximal part is present

absent temporal bone squamous part ( J:50488 )

absent zygomatic arch ( J:50488 )

• the entire zygomatic arch is absent

abnormal hyoid bone morphology ( J:50488 )

• the styloid process is abnormally fused to the hyoid bone

absent incisors ( J:50488 )

• 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%)

abnormal mandible morphology ( J:50488 )

• dentaries are shortened and their distal tips fused

• at E18.5, ~8% of double homozygotes show a cleft mandible and tongue

short mandible ( J:50488 )

• at E12.5, the lower jaw is much shorter than normal

absent maxillary shelf ( J:50488 )

absent maxillary zygomatic process ( J:50488 )

• the malar (zygomatic) process of the maxilla is absent

micrognathia ( J:50488 )

• severely reduced lower jaw

absent zygomatic bone ( J:50488 )

abnormal malleus morphology ( J:50488 )

• malformed malleus, with an ectopic process immediately distal from the malleus

abnormal stapes morphology ( J:50488 )

• 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

cleft secondary palate ( J:50488 )

abnormal tongue position ( J:50488 )

• tongue inserts through the cleft palate into the nasal cavity, obstructing the airway

pointed snout ( J:50488 )

anotia ( J:50488 )

• absence of external ears

• an ectopic crescent-shaped cartilaginous element is found in the remnant of the auricle

hearing/vestibular/ear

abnormal oval window morphology ( J:50488 )

• the oval window is displaced medially

abnormal malleus morphology ( J:50488 )

• malformed malleus, with an ectopic process immediately distal from the malleus

abnormal stapes morphology ( J:50488 )

• 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

anotia ( J:50488 )

• absence of external ears

• an ectopic crescent-shaped cartilaginous element is found in the remnant of the auricle

absent lateral semicircular canal ( J:50488 )

• only a remnant of the lateral duct found in a small cavity in the otic capsule is observed

small otic capsule ( J:50488 )

• in newborns, the entire otic capsule is reduced due to reduced outgrowth of the ducts of the membranous labyrinth

homeostasis/metabolism

cyanosis ( J:50488 )

• newborn double homozygotes are cyanotic, indicating lack of oxygen

digestive/alimentary system

absent maxillary shelf ( J:50488 )

cleft secondary palate ( J:50488 )

abnormal tongue position ( J:50488 )

• tongue inserts through the cleft palate into the nasal cavity, obstructing the airway

nervous system

spina bifida ( J:50488 )

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

embryo

spina bifida ( J:50488 )

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

growth/size/body

absent incisors ( J:50488 )

• 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%)

absent maxillary shelf ( J:50488 )

cleft secondary palate ( J:50488 )

abnormal tongue position ( J:50488 )

• tongue inserts through the cleft palate into the nasal cavity, obstructing the airway

pointed snout ( J:50488 )

anotia ( J:50488 )

• absence of external ears

• an ectopic crescent-shaped cartilaginous element is found in the remnant of the auricle

Allelic Composition	Prrx1^tm1Tex/Prrx1⁺ Prrx2^tm1Hubr/Prrx2^tm1Hubr
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB

Find Mice

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:50488 )

• ~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

respiratory distress ( J:50488 )

• ~80% of newborns show respiratory problems

growth/size/body

palatal shelf hypoplasia ( J:50488 )

cleft secondary palate ( J:50488 )

• ~80% of newborns display a cleft secondary palate

distended abdomen ( J:50488 )

• ~80% of newborns display abdominal distension

craniofacial

palatal shelf hypoplasia ( J:50488 )

cleft secondary palate ( J:50488 )

• ~80% of newborns display a cleft secondary palate

digestive/alimentary system

palatal shelf hypoplasia ( J:50488 )

cleft secondary palate ( J:50488 )

• ~80% of newborns display a cleft secondary palate

skeleton

abnormal stylohyoid ligament morphology ( J:50488 )

• the stylohyoid ligament is chondrified

Allelic Composition	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Hubr/Prrx2⁺
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * FVB

Find Mice

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

craniofacial

short Meckel's cartilage ( J:50488 )

• at E14.5, Meckel's cartilage is truncated

abnormal incisor morphology ( J:50488 )

• newborns exhibit closely spaced incisors

abnormal mandible morphology ( J:50488 )

• newborns exhibit shortened dentaries

skeleton

short Meckel's cartilage ( J:50488 )

• at E14.5, Meckel's cartilage is truncated

abnormal incisor morphology ( J:50488 )

• newborns exhibit closely spaced incisors

abnormal mandible morphology ( J:50488 )

• newborns exhibit shortened dentaries

abnormal metacarpal bone morphology ( J:50488 )

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

growth/size/body

abnormal incisor morphology ( J:50488 )

• newborns exhibit closely spaced incisors

limbs/digits/tail

abnormal metacarpal bone morphology ( J:50488 )

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

Allelic Composition	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Mjk/Prrx2^tm1Mjk
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrx1^tm1Tex mutation (0 available); any Prrx1 mutation (31 available)
Prrx2^tm1Mjk mutation (0 available); any Prrx2 mutation (11 available)

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

cardiovascular system

abnormal artery morphology ( J:60507 )

• all great arteries appear to run somewhat tortuously through the surrounding mesenchyme

• arteries sometimes show irregular vessel walls instead of smooth ones, although vessel wall thickness is normal

abnormal pulmonary trunk morphology ( J:60507 )

• pulmonary trunk is positioned slightly more vertically than in wild-types

abnormal aortic arch morphology ( J:60507 )

• exhibit abnormal positioning and awkward curvature of the aortic arch

abnormal aortic arch and aortic arch branch attachment ( J:60507 )

• the arteries branching off the aortic arch appear to be set slightly further apart than in wild-type

retroesophageal right subclavian artery ( J:60507 )

• 2 of 7 show a retroesophageal right subclavian artery

abnormal fetal ductus arteriosus morphology ( J:60507 )

• exhibit a misdirected and elongated ductus arterious

Allelic Composition	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Mjk/Prrx2^tm1Mjk
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:51596 , J:52212 )

• die within 24 hours of birth (J:51596)

• all die neonatally, most likely from respiratory failure (J:52212)

embryo

abnormal apical ectodermal ridge morphology ( J:52212 )

• integrity of the forelimb apical ectodermal ridge is abnormal as determined by expression of Fgf8 and Bmp4

respiratory system

respiratory distress ( J:51596 )

• exhibit respiratory distress marked by gasping motions and cyanosis

respiratory failure ( J:52212 )

limbs/digits/tail

abnormal limb morphology ( J:51596 )

• show severe defects in limb morphogenesis

abnormal apical ectodermal ridge morphology ( J:52212 )

• integrity of the forelimb apical ectodermal ridge is abnormal as determined by expression of Fgf8 and Bmp4

abnormal autopod morphology ( J:52212 )

• in the forelimb autopod, most commonly see postaxial polydactyly, however syndactyly, oligodactyly, and abnormal digit placement affecting posterior elements are also seen

abnormal carpal bone morphology ( J:52212 )

• the hamate carpal is abnormal

• mutants with the oligodactyly phenotype show posterior carpal defects in which the hamate is truncated and the triquetrum is deleted

absent triquetrum ( J:52212 )

• the triquetrum is deleted in mutants with oligodactyly

abnormal digit morphology ( J:52212 )

abnormal phalanx morphology ( J:52212 )

• 83% exhibit duplications of the phalanges of the first digit of the forelimb

• 2 of 12 (17%) show duplications of the most distal phalange of the 5th digit in the hindlimb

ectopic digits ( J:52212 )

• 25% show a laterally displaced digit 5 in forelimb autopods

• abnormal placement of the 5th digit results from an abnormal articulation between the 5th digit and the hamate carpal

hindlimb oligodactyly ( J:52212 )

• 8% (1 of 12) shows complete loss of posterior digits

postaxial polydactyly ( J:52212 )

• 67% of forelimb autopods show postaxial polydactyly with variable expressivity; the extra skeletal element ranges from a small extra, posterior cartilaginous body that does not articulate with a carpal to more extensively formed cartilage element that is fused to an abnormally laterally positioned triquetrum

preaxial polydactyly ( J:52212 )

• 100% of hindlimb autopods show preaxial polydactyly resulting from a duplication of the first digit

syndactyly ( J:52212 )

• one shows syndactyly of the proximal phyalange of digits 3 and 4

abnormal hindlimb zeugopod morphology ( J:52212 )

• exhibit extreme shortening and impaired ossification of the hindlimb zeugopods

skeleton

absent Meckel's cartilage ( J:51596 )

• Meckel's cartilage is absent except for a remnant at the most rostral tip of the developing mandible

absent incisors ( J:51596 )

• fail to form an incisor tooth

abnormal tooth development ( J:51596 )

• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone

abnormal odontoblast differentiation ( J:51596 )

• exhibit failure of odontoblasts to differentiate

abnormal ameloblast differentiation ( J:51596 )

• exhibit failure of ameloblasts to differentiate

growth retardation of incisors ( J:51596 )

• mandibular incisor development arrests at the single tooth bud

• although the mesenchyme condenses around the dental epithelium, the morphogenic events leading to the bell-stage tooth fail to occur

abnormal mandible morphology ( J:51596 )

• mandible is fused at its most rostral aspect

short mandible ( J:51596 )

• mandible is severely shortened

absent maxillary shelf ( J:51596 )

• the palatal process of the maxilla is deleted

absent maxillary zygomatic process ( J:51596 )

• the zygomatic process of the maxilla is deleted

abnormal carpal bone morphology ( J:52212 )

• the hamate carpal is abnormal

• mutants with the oligodactyly phenotype show posterior carpal defects in which the hamate is truncated and the triquetrum is deleted

absent triquetrum ( J:52212 )

• the triquetrum is deleted in mutants with oligodactyly

abnormal phalanx morphology ( J:52212 )

• 83% exhibit duplications of the phalanges of the first digit of the forelimb

• 2 of 12 (17%) show duplications of the most distal phalange of the 5th digit in the hindlimb

abnormal epiphyseal plate morphology ( J:52212 )

• architecture of the tibiotarsal diaphyseal growth plate is abnormal in that little ossification occurs

• proliferating chondrocytes lose their normal polarity parallel to the long axis of the bone and assume a perpendicular orientation

abnormal long bone hypertrophic chondrocyte zone ( J:52212 )

• some hypertrophying chondrocytes are seen, however these cells are abnormally shifted laterally to one side of the tibia

abnormal bone ossification ( J:52212 )

• endochondral ossification is abnormal in limbs as indicated by the small, laterally displaced ossification zone

behavior/neurological

aphagia ( J:51596 )

• do not feed

hearing/vestibular/ear

abnormal ear position ( J:51596 )

• neonates have posteriorly displaced auricles

outer ear hypoplasia ( J:51596 )

• neonates have more hypoplastic auricles

homeostasis/metabolism

cyanosis ( J:51596 )

vision/eye

absent eyelids ( J:51596 )

• exhibit open eyes secondary to failure of eyelid formation

eyelids open at birth ( J:51596 )

• exhibit open eyes secondary to failure of eyelid formation

craniofacial

absent Meckel's cartilage ( J:51596 )

• Meckel's cartilage is absent except for a remnant at the most rostral tip of the developing mandible

absent incisors ( J:51596 )

• fail to form an incisor tooth

abnormal tooth development ( J:51596 )

• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone

abnormal odontoblast differentiation ( J:51596 )

• exhibit failure of odontoblasts to differentiate

abnormal ameloblast differentiation ( J:51596 )

• exhibit failure of ameloblasts to differentiate

growth retardation of incisors ( J:51596 )

• mandibular incisor development arrests at the single tooth bud

• although the mesenchyme condenses around the dental epithelium, the morphogenic events leading to the bell-stage tooth fail to occur

abnormal mandible morphology ( J:51596 )

• mandible is fused at its most rostral aspect

short mandible ( J:51596 )

• mandible is severely shortened

absent maxillary shelf ( J:51596 )

• the palatal process of the maxilla is deleted

absent maxillary zygomatic process ( J:51596 )

• the zygomatic process of the maxilla is deleted

cleft secondary palate ( J:51596 )

• all have a cleft secondary palate

abnormal ear position ( J:51596 )

• neonates have posteriorly displaced auricles

outer ear hypoplasia ( J:51596 )

• neonates have more hypoplastic auricles

digestive/alimentary system

absent maxillary shelf ( J:51596 )

• the palatal process of the maxilla is deleted

cleft secondary palate ( J:51596 )

• all have a cleft secondary palate

growth/size/body

absent incisors ( J:51596 )

• fail to form an incisor tooth

abnormal tooth development ( J:51596 )

• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone

abnormal odontoblast differentiation ( J:51596 )

• exhibit failure of odontoblasts to differentiate

abnormal ameloblast differentiation ( J:51596 )

• exhibit failure of ameloblasts to differentiate

growth retardation of incisors ( J:51596 )

• mandibular incisor development arrests at the single tooth bud

• although the mesenchyme condenses around the dental epithelium, the morphogenic events leading to the bell-stage tooth fail to occur

absent maxillary shelf ( J:51596 )

• the palatal process of the maxilla is deleted

cleft secondary palate ( J:51596 )

• all have a cleft secondary palate

abnormal ear position ( J:51596 )

• neonates have posteriorly displaced auricles

outer ear hypoplasia ( J:51596 )

• neonates have more hypoplastic auricles

Allelic Composition	Prrx1^tm1Tex/Prrx1^tm1Tex Prrx2^tm1Mjk/Prrx2⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

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

limbs/digits/tail

forelimb oligodactyly ( J:52212 )

• 2 of 9 (22%) show oligodactyly of forelimb autopods

polydactyly ( J:52212 )

• 4 of 9 (44%) exhbit postaxial polydactyly of forelimb autopods that is less severe than seen in double homozygous mutants; none show hindlimb preaxial polydactyly

• 1 of 9 (11%) shows duplications of the first digit of the forelimb

abnormal hindlimb zeugopod morphology ( J:52212 )

• zeugopod is shorter than in wild-type but not as short as in double homozygous mutants

craniofacial

abnormal incisor morphology ( J:51596 )

• exhibit only a single midline incisor tooth

abnormal mandible morphology ( J:51596 )

• mandible is fused rostrally

skeleton

abnormal incisor morphology ( J:51596 )

• exhibit only a single midline incisor tooth

abnormal mandible morphology ( J:51596 )

• mandible is fused rostrally

growth/size/body

abnormal incisor morphology ( J:51596 )

• exhibit only a single midline incisor tooth

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