Phenotypes Associated with This Genotype

Genotype
MGI:6406756

• Allelic Composition: B3glct^{tm1b(KOMP)Wtsi}/B3glct^{tm1b(KOMP)Wtsi}
• Genetic Background: B6(Cg)-B3glct^{tm1b(KOMP)Wtsi}

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

craniofacial

wide frontal bone ( J:286130 )

• greater width of the frontal bones in 6 week old mice

abnormal sphenoid bone morphology ( J:286130 )

• shorter sphenoid bone length

• a hole in the center of sphenoid bone

enlarged neurocranium ( J:286130 )

• expansion and rounding of the cranial vault with increases in the vault length and height

abnormal nasal bone morphology ( J:286130 )

• squared nasal bones

broad nasal bone ( J:286130 )

• greater width of the nasal bone in 6 week old mice

short facial bone ( J:286130 )

short frontal bone ( J:286130 )

• shorter anterior facial bone length

facial asymmetry ( J:286130 )

• nasal asymmetry is associated with asymmetry in other parts of the face, including the upper jaw and zygomatic arch

growth/size/body

abnormal nasal bone morphology ( J:286130 )

• squared nasal bones

broad nasal bone ( J:286130 )

• greater width of the nasal bone in 6 week old mice

facial asymmetry ( J:286130 )

• nasal asymmetry is associated with asymmetry in other parts of the face, including the upper jaw and zygomatic arch

decreased body size ( J:286130 )

• mice are smaller at weaning, with a greater effect in females

integument

white spotting ( J:286130 )

• high penetrance of white spotting in the lumbar region, with ventral white spotting present in all mutants and some degree of dorsal white spotting in the majority of mice

limbs/digits/tail

syndactyly ( J:286130 )

• soft tissue syndactyly in front and rear paws

pigmentation

white spotting ( J:286130 )

• high penetrance of white spotting in the lumbar region, with ventral white spotting present in all mutants and some degree of dorsal white spotting in the majority of mice

skeleton

wide frontal bone ( J:286130 )

• greater width of the frontal bones in 6 week old mice

abnormal sphenoid bone morphology ( J:286130 )

• shorter sphenoid bone length

• a hole in the center of sphenoid bone

enlarged neurocranium ( J:286130 )

• expansion and rounding of the cranial vault with increases in the vault length and height

abnormal nasal bone morphology ( J:286130 )

• squared nasal bones

broad nasal bone ( J:286130 )

• greater width of the nasal bone in 6 week old mice

short facial bone ( J:286130 )

short frontal bone ( J:286130 )

• shorter anterior facial bone length

abnormal intramembranous bone ossification ( J:286130 )

• a lack of frontal bone ossification near the midline coronal suture

vision/eye

vision/eye phenotype ( J:286130 )

N • mice do not develop corneal opacity

ocular hypertelorism ( J:286130 )

• greater width of the nasal and frontal bones in 6 week old mice is analogous to hypertelorism

respiratory system

abnormal nasal bone morphology ( J:286130 )

• squared nasal bones

broad nasal bone ( J:286130 )

• greater width of the nasal bone in 6 week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters plus syndrome		DOID:0080201	OMIM:261540	J:286130