Phenotypes Associated with This Genotype

Genotype
MGI:5578346

• Allelic Composition: Rps6ka3^tm1.1Kry/Y
• Genetic Background: involves: 129X1/SvJ

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

craniofacial

large fontanelles ( J:89403 )

♂ • opened fontanelles at birth

wide cranial sutures ( J:89403 )

♂ • widened due to reduced cranial bones

decreased cranium length ( J:211945 )

♂ • overall skull length reduction from the nasal to the occipital bone

small frontal bone ( J:89403 )

♂ • reduction in size at E16 and birth

short frontal bone ( J:211945 )

♂ • frontal bone shows the greatest reduction in length of all the skull bones

small interparietal bone ( J:89403 )

♂ • reduction in size at E16 and birth

small parietal bone ( J:89403 )

♂ • reduction in size at E16 and birth

abnormal diastema morphology ( J:211945 )

♂ • the maxillary diastema is reduced in mice with supernumerary teeth, however the mandibulary diastema is normal

abnormal tooth morphology ( J:211945 )

♂ • in mice without supernumerary teeth, the length of the molar row is reduced in both the lower and upper jaws

♂ • however, when supernumerary teeth are present, the length of the molar row is almost normal in the mandible but is increased in the maxilla

abnormal molar morphology ( J:211945 )

♂ • reduction in molar 1-3 length

♂ • shape abnormalities in the mesial parts of the first lower and first upper molars

♂ • in the upper molar, the central cusp of the medial crest tends to be reduced and the crest is more flattened

♂ • the mesial crest of the first lower molar has an abnormal shape

abnormal molar crown morphology ( J:211945 )

♂ • when a supernumerary tooth is present, the mesial part of the first molar has an altered crown morphology

abnormal tooth root development ( J:211945 )

♂ • mice exhibit abnormal molar root development

supernumerary teeth ( J:211945 )

♂ • supernumerary teeth are aligned with the molar tooth row and located just in front and at the contract of the first molars

♂ • 65% of mice show supernumerary teeth in the upper dentition and 31% in the lower dentition

♂ • supernumerary teeth are variable in shape and size, although they are smaller than the adjacent first molar

♂ • an extra tooth placode and subsequent enamel knot is seen at E14.5, most likely corresponding to the primordium of the supernumerary tooth

growth/size/body

abnormal tooth morphology ( J:211945 )

♂ • in mice without supernumerary teeth, the length of the molar row is reduced in both the lower and upper jaws

♂ • however, when supernumerary teeth are present, the length of the molar row is almost normal in the mandible but is increased in the maxilla

abnormal molar morphology ( J:211945 )

♂ • reduction in molar 1-3 length

♂ • shape abnormalities in the mesial parts of the first lower and first upper molars

♂ • in the upper molar, the central cusp of the medial crest tends to be reduced and the crest is more flattened

♂ • the mesial crest of the first lower molar has an abnormal shape

abnormal molar crown morphology ( J:211945 )

♂ • when a supernumerary tooth is present, the mesial part of the first molar has an altered crown morphology

abnormal tooth root development ( J:211945 )

♂ • mice exhibit abnormal molar root development

supernumerary teeth ( J:211945 )

♂ • supernumerary teeth are aligned with the molar tooth row and located just in front and at the contract of the first molars

♂ • 65% of mice show supernumerary teeth in the upper dentition and 31% in the lower dentition

♂ • supernumerary teeth are variable in shape and size, although they are smaller than the adjacent first molar

♂ • an extra tooth placode and subsequent enamel knot is seen at E14.5, most likely corresponding to the primordium of the supernumerary tooth

skeleton

large fontanelles ( J:89403 )

♂ • opened fontanelles at birth

wide cranial sutures ( J:89403 )

♂ • widened due to reduced cranial bones

decreased cranium length ( J:211945 )

♂ • overall skull length reduction from the nasal to the occipital bone

small frontal bone ( J:89403 )

♂ • reduction in size at E16 and birth

short frontal bone ( J:211945 )

♂ • frontal bone shows the greatest reduction in length of all the skull bones

small interparietal bone ( J:89403 )

♂ • reduction in size at E16 and birth

small parietal bone ( J:89403 )

♂ • reduction in size at E16 and birth

abnormal diastema morphology ( J:211945 )

♂ • the maxillary diastema is reduced in mice with supernumerary teeth, however the mandibulary diastema is normal

abnormal tooth morphology ( J:211945 )

♂ • in mice without supernumerary teeth, the length of the molar row is reduced in both the lower and upper jaws

♂ • however, when supernumerary teeth are present, the length of the molar row is almost normal in the mandible but is increased in the maxilla

abnormal molar morphology ( J:211945 )

♂ • reduction in molar 1-3 length

♂ • shape abnormalities in the mesial parts of the first lower and first upper molars

♂ • in the upper molar, the central cusp of the medial crest tends to be reduced and the crest is more flattened

♂ • the mesial crest of the first lower molar has an abnormal shape

abnormal molar crown morphology ( J:211945 )

♂ • when a supernumerary tooth is present, the mesial part of the first molar has an altered crown morphology

abnormal tooth root development ( J:211945 )

♂ • mice exhibit abnormal molar root development

supernumerary teeth ( J:211945 )

♂ • supernumerary teeth are aligned with the molar tooth row and located just in front and at the contract of the first molars

♂ • 65% of mice show supernumerary teeth in the upper dentition and 31% in the lower dentition

♂ • supernumerary teeth are variable in shape and size, although they are smaller than the adjacent first molar

♂ • an extra tooth placode and subsequent enamel knot is seen at E14.5, most likely corresponding to the primordium of the supernumerary tooth

abnormal long bone morphology ( J:89403 )

♂ • reduction of bone mass in long bones at 1 and 2 months of age

decreased length of long bones ( J:89403 )

♂ • at 1 month of age

small vertebrae ( J:89403 )

♂ • reduction of bone mass in vertebrae at 1 and 2 months of age

decreased bone trabecula number ( J:89403 )

♂ • the number and thickness of trabeculae are decreased

decreased bone mass ( J:89403 )

♂ • reduction of bone mass in vertebrae and in long bones at 1 and 2 months of age

abnormal bone ossification ( J:89403 )

♂ • bone formation rate is decreased, indicating impaired osteoblast fuction

♂ • normal number and function of osteoclasts

abnormal bone mineralization ( J:89403 )

♂ • delay in mineralization of the skull at E16 and at birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Coffin-Lowry syndrome		DOID:3783	OMIM:303600	J:89403 , J:211945