Phenotypes associated with this allele

• Allele Symbol: Alx4^Lst-2J
• Allele Name: Strong's luxoid 2 Jackson
• Allele ID: MGI:3829369
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Alx4^Lst-2J/Alx4^Lst-2J	C57BL/6J-Alx4^Lst-2J/J	MGI:5695543
hm2	Alx4^Lst-2J/Alx4^Lst-2J	involves: C57BL/6J * CD-1	MGI:7336699
ht3	Alx4^Lst-2J/Alx4^+	C57BL/6J-Alx4^Lst-2J/J	MGI:5695544
ht4	Alx4^Lst-2J/Alx4^lst-J	involves: C3H/FeJLe * C57BL/6J	MGI:5695756
cx5	Alx1^em1Jian/Alx1^em1Jian Alx4^Lst-2J/Alx4^+	involves: C57BL/6J * C57BL/6N * CD-1	MGI:7336700
cx6	Alx1^em1Jian/Alx1^em1Jian Alx4^Lst-2J/Alx4^Lst-2J	involves: C57BL/6J * C57BL/6N * CD-1	MGI:7336704

Genotype
MGI:5695543

hm1

• Allelic Composition: Alx4^Lst-2J/Alx4^Lst-2J
• Genetic Background: C57BL/6J-Alx4^Lst-2J/J

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

limbs/digits/tail

polydactyly ( J:223288 )

• homozygotes have polydactyly on all four feet

skeleton

abnormal neurocranium morphology ( J:223288 )

abnormal frontal bone morphology ( J:223288 )

• homozygotes can have large bulges at the anterior skull, above the snout, indicating defective calvaria formation

integument

alopecia ( J:223288 )

• homozygotes have dorsal alopecia

craniofacial

abnormal neurocranium morphology ( J:223288 )

abnormal frontal bone morphology ( J:223288 )

• homozygotes can have large bulges at the anterior skull, above the snout, indicating defective calvaria formation

short snout ( J:223288 )

vision/eye

cataract ( J:223288 )

ocular hypertelorism ( J:223288 )

• craniofacial abnormalities of homozygotes includes wide-set eyes

eyelids open at birth ( J:223288 )

growth/size/body

short snout ( J:223288 )

mortality/aging

perinatal lethality, incomplete penetrance ( J:223288 )

• litters from heterozgyous intercrosses often have pups that die perinatally, but a few homozygotes do survive to adulthood

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
parietal foramina		DOID:0060285	OMIM:168500 OMIM:609566 OMIM:609597	J:223288

Genotype
MGI:7336699

hm2

• Allelic Composition: Alx4^Lst-2J/Alx4^Lst-2J
• Genetic Background: involves: C57BL/6J * CD-1

vision/eye

failure of eyelid fusion ( J:320497 )

• at E18.5, fetuses exhibit failure of eyelid closure

craniofacial

craniofacial phenotype ( J:320497 )

N • at E18.5, frontonasal development is relatively normal; the premaxilla appears normally developed

Genotype
MGI:5695544

ht3

• Allelic Composition: Alx4^Lst-2J/Alx4⁺
• Genetic Background: C57BL/6J-Alx4^Lst-2J/J

limbs/digits/tail

preaxial polydactyly ( J:223288 )

• preaxial polydactyly on one hind limb is often found

craniofacial

short snout ( J:223288 )

growth/size/body

short snout ( J:223288 )

Genotype
MGI:5695756

ht4

• Allelic Composition: Alx4^Lst-2J/Alx4^lst-J
• Genetic Background: involves: C3H/FeJLe * C57BL/6J

vision/eye

eyelids open at birth ( J:223288 )

limbs/digits/tail

polydactyly ( J:223288 )

Genotype
MGI:7336700

cx5

• Allelic Composition: Alx1^em1Jian/Alx1^em1Jian; Alx4^Lst-2J/Alx4⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1

craniofacial

abnormal presphenoid bone morphology ( J:320497 )

• at E18.5, the presphenoid bone in the cranial base is severely malformed

abnormal premaxilla morphology ( J:320497 )

• at E18.5, the premaxilla is severely malformed

abnormal lateral nasal prominence morphology ( J:320497 )

• at E10.5, a clear reduction of Pax7 expression is observed in the caudal region of the lateral nasal process (LNP); both Lhx6 and Lhx8 mRNAs show higher ectopic expression in the caudal region of the LNP than in Alx1^em1Jian homozygotes

midline cleft upper lip ( J:320497 )

• at E18.5, severe notching of the upper lip is observed

short philtrum ( J:320497 )

• at E18.5, the philtrum is further shortened relative to Alx1^em1Jian homozygotes

broad nasal bridge ( J:320497 )

• at E18.5, the nasal bridge is severely widened

depressed nasal bridge ( J:320497 )

• at E18.5, the nasal bridge is severely depressed

growth/size/body

midline cleft upper lip ( J:320497 )

• at E18.5, severe notching of the upper lip is observed

short philtrum ( J:320497 )

• at E18.5, the philtrum is further shortened relative to Alx1^em1Jian homozygotes

broad nasal bridge ( J:320497 )

• at E18.5, the nasal bridge is severely widened

depressed nasal bridge ( J:320497 )

• at E18.5, the nasal bridge is severely depressed

skeleton

abnormal presphenoid bone morphology ( J:320497 )

• at E18.5, the presphenoid bone in the cranial base is severely malformed

abnormal premaxilla morphology ( J:320497 )

• at E18.5, the premaxilla is severely malformed

respiratory system

broad nasal bridge ( J:320497 )

• at E18.5, the nasal bridge is severely widened

depressed nasal bridge ( J:320497 )

• at E18.5, the nasal bridge is severely depressed

Genotype
MGI:7336704

cx6

• Allelic Composition: Alx1^em1Jian/Alx1^em1Jian; Alx4^Lst-2J/Alx4^Lst-2J
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1

craniofacial

abnormal premaxilla morphology ( J:320497 )

• at E18.5, the premaxilla is severely malformed

abnormal lateral nasal prominence morphology ( J:320497 )

• at E10.5, the domain of Pax7 expression is severely reduced while the domain of ectopic expression of both Lhx6 and Lhx8 mRNAs is further expanded in the lateral nasal process (LNP)

abnormal medial nasal prominence morphology ( J:320497 )

• at E10.5, ectopic activation of Lhx6 and Lhx8 expression is observed in the medial nasal processes (MNP)

midline cleft upper lip ( J:320497 )

• at E18.5, a wide midline cleft of the upper lip and nose is observed

midline facial cleft ( J:320497 )

• at E18.5, an overt midline facial cleft is observed, with a wide gap separating the rudimentary nasal structures

growth/size/body

midline cleft upper lip ( J:320497 )

• at E18.5, a wide midline cleft of the upper lip and nose is observed

midline facial cleft ( J:320497 )

• at E18.5, an overt midline facial cleft is observed, with a wide gap separating the rudimentary nasal structures

skeleton

abnormal premaxilla morphology ( J:320497 )

• at E18.5, the premaxilla is severely malformed