Phenotypes associated with this allele

• Allele Symbol: Six4^tm1Mair
• Allele Name: targeted mutation 1, Pascal Maire
• Allele ID: MGI:3579501
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Six1^tm1Mair/Six1^tm1Mair Six4^tm1Mair/Six4^tm1Mair	either: 129/Sv-Six1^tm1Mair Six4^tm1Mair or B6N.129-Six1^tm1Mair Six4^tm1Mair	MGI:3579989

Genotype
MGI:3579989

cx1

• Allelic Composition: Six1^tm1Mair/Six1^tm1Mair; Six4^tm1Mair/Six4^tm1Mair
• Genetic Background: either: 129/Sv-Six1^tm1Mair Six4^tm1Mair or B6N.129-Six1^tm1Mair Six4^tm1Mair

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

mortality/aging

perinatal lethality, complete penetrance ( J:98519 )

• double homozygotes die at birth

skeleton

absent Meckel's cartilage ( J:98519 )

small temporal bone ( J:98519 )

• the temporal bone is reduced

small orbits ( J:98519 )

• the orbits are small

short mandible ( J:98519 )

• the mandible is extremely short

absent maxillary shelf ( J:98519 )

• the palatal process is absent

absent premaxilla ( J:98519 )

short maxilla ( J:98519 )

absent nasal bone ( J:98519 )

• absent nasal bone

absent zygomatic bone ( J:98519 )

abnormal sternocostal joint morphology ( J:98519 )

• no ribs attach to the sternum

short ribs ( J:98519 )

• distal ribs are reduced to small protrusions

muscle

abnormal muscle precursor cell migration ( J:98519 )

• muscle progenitor cells fail to migrate into the limbs

absent eye muscles ( J:98519 )

• most muscles are lacking at the eye level at E13.5

abnormal muscle development ( J:98519 )

abnormal skeletal muscle morphology ( J:98519 )

• most ventral muscles are missing

• back muscles at the forelimb level and more rostrally are abnormally shaped, while those at the interlimb and hindlimb level are not as severely affected

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

absent hypaxial muscle ( J:98519 )

• all muscles of the distal forelimb and hindlimb are absent

• all muscles of the proximal limbs are absent

• hypaxial muscle at the trunk level is severely diminished

muscle hypoplasia ( J:98519 )

• severe muscle hypoplasia is evident at E13.5 in the forelimbs with a total absence of myogenic cells in the limbs

• at E13.5, myogenic cell are absent from the abdominal region

• at E13.5, most muscles are lacking at the eye level and in the tongue; however, most head muscles are present at E18.5

hearing/vestibular/ear

anotia ( J:98519 )

• mutants are earless

abnormal inner ear morphology ( J:98519 )

• inner ear cartilage is absent

absent tympanic ring ( J:98519 )

• the ectotympanic bone is missing

growth/size/body

absent maxillary shelf ( J:98519 )

• the palatal process is absent

absent nasal bone ( J:98519 )

• absent nasal bone

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

anotia ( J:98519 )

• mutants are earless

decreased embryo size ( J:98519 )

distended abdomen ( J:98519 )

limbs/digits/tail

abnormal forelimb morphology ( J:98519 )

• abnormally bent forelimbs

abnormal hindlimb morphology ( J:98519 )

• abnormally bent hindlimbs

behavior/neurological

trunk curl ( J:98519 )

vision/eye

small orbits ( J:98519 )

• the orbits are small

absent eye muscles ( J:98519 )

• most muscles are lacking at the eye level at E13.5

exophthalmos ( J:98519 )

eyelids open at birth ( J:98519 )

craniofacial

absent Meckel's cartilage ( J:98519 )

small temporal bone ( J:98519 )

• the temporal bone is reduced

small orbits ( J:98519 )

• the orbits are small

short mandible ( J:98519 )

• the mandible is extremely short

absent maxillary shelf ( J:98519 )

• the palatal process is absent

absent premaxilla ( J:98519 )

short maxilla ( J:98519 )

absent nasal bone ( J:98519 )

• absent nasal bone

absent zygomatic bone ( J:98519 )

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

anotia ( J:98519 )

• mutants are earless

embryo

decreased embryo size ( J:98519 )

digestive/alimentary system

absent maxillary shelf ( J:98519 )

• the palatal process is absent

abnormal genioglossus muscle morphology ( J:98519 )

• the genioglossus muscle is absent at E18.5

• however, the mylohyoid is present

abnormal intrinsic tongue muscle morphology ( J:98519 )

• intrinsic tongue muscle is reduced at E18.5

absent tongue muscles ( J:98519 )

• tongue muscles are absent at E13.5

cellular

abnormal muscle precursor cell migration ( J:98519 )

• muscle progenitor cells fail to migrate into the limbs

respiratory system

absent nasal bone ( J:98519 )

• absent nasal bone