Phenotypes Associated with This Genotype

Genotype
MGI:6406868

• Allelic Composition: B3glct^tm1.2Nari/B3glct^tm1.2Nari
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * DBA/2 * SJL

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

craniofacial

short basicranium ( J:286130 )

• 3 week old mice have shorter cranial bases along the anterior-posterior axis

abnormal cranium size ( J:286130 )

• skulls are shorter, taller and wider in 3 and 6 week old mice

increased cranium height ( J:286130 )

• skull is taller in 3 and 6 week old mice

increased cranium width ( J:286130 )

• skull is wider in 3 and 6 week old mice

abnormal neurocranium morphology ( J:286130 )

• 3 week old mice have shorter cranial vaults

• rounding of the cranial vault

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 )

• shorter anterior facial bone length

short frontal bone ( J:286130 )

facial asymmetry ( J:286130 )

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

short face ( J:286130 )

• 3 week old mice have shorter faces

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

short face ( J:286130 )

• 3 week old mice have shorter faces

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

limbs/digits/tail

brachydactyly ( J:286130 )

nervous system

hydrocephaly ( J:286130 )

• 11 of 20 mice develop hydrocephalus between 3 and 6 weeks of age

pigmentation

white spotting ( J:286130 )

• high penetrance of white spotting in the lumbar region

skeleton

short basicranium ( J:286130 )

• 3 week old mice have shorter cranial bases along the anterior-posterior axis

abnormal cranium size ( J:286130 )

• skulls are shorter, taller and wider in 3 and 6 week old mice

increased cranium height ( J:286130 )

• skull is taller in 3 and 6 week old mice

increased cranium width ( J:286130 )

• skull is wider in 3 and 6 week old mice

abnormal neurocranium morphology ( J:286130 )

• 3 week old mice have shorter cranial vaults

• rounding of the cranial vault

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 )

• shorter anterior facial bone length

short frontal bone ( J:286130 )

decreased long bone epiphyseal plate size ( J:286130 )

• proximal tibial growth plates are well organized but are 15% and 17% narrower in 21 day old females and males, respectively

decreased length of long bones ( J:286130 )

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