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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rps6ka3tm1.1Kry
targeted mutation 1.1, Gerard Karsenty
MGI:3042586
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rps6ka3tm1.1Kry/Rps6ka3tm1.1Kry B6.129X1(Cg)-Rps6ka3tm1.1Kry MGI:5529680
hm2
 		Rps6ka3tm1.1Kry/Rps6ka3tm1.1Kry involves: 129X1/SvJ MGI:3043197
ht3
 		Rps6ka3tm1.1Kry/Rps6ka3+ involves: 129X1/SvJ MGI:3043224
cx4
 		Egfrwa2/Egfr+
Rps6ka3tm1.1Kry/Y
Tg(KRT5-SOS1)892A6Wag/0 		involves: 129X1/SvJ * C57BL/6 * CBA MGI:5142270
ot5
 		Rps6ka3tm1.1Kry/Y involves: 129X1/SvJ MGI:5578346


Genotype
MGI:5529680
hm1
Allelic
Composition		 Rps6ka3tm1.1Kry/Rps6ka3tm1.1Kry
Genetic
Background		 B6.129X1(Cg)-Rps6ka3tm1.1Kry
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rps6ka3tm1.1Kry mutation (0 available); any Rps6ka3 mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal associative learning ( J:201540 )
• although mutants exhibit normal cued or contextual fear memory retention 24 hours after learning in the trace fear conditioning paradigm, mutants exhibit less freezing than wild-type mice in response to the tone-conditioned stimulus, indicating impaired long-term retention of trace fear memory
abnormal contextual conditioning behavior ( J:201540 )
• mutants exhibit a mild impairment of reconsolidation of a previously established contextual fear memory

nervous system
abnormal dendritic spine morphology ( J:201540 )
• dentate gyrus exhibits altered dendritic spine morphology, showing larger-headed spines with thick necks
abnormal synapse morphology ( J:201540 )
• dentate gyrus exhibits altered excitatory synapse morphology, showing an increase in size of both spine necks and synapse postsynaptic density
abnormal postsynaptic density morphology ( J:201540 )
• dentate gyrus exhibits altered excitatory synapse morphology, showing an increase in size of both spine necks and synapse postsynaptic density
abnormal CNS synaptic transmission ( J:201540 )
• mutants exhibit reduced basic synaptic transmission in the dentate gyrus
• spike facilitation by paired-pulses occurs at longer inter-stimulus interval in mutants than in wild-type mice and the amplitude of spike facilitation at long inter-stimulus intervals is decreased suggesting decreased network excitability in the dentate gyrus
• however, mutants show normal long-term potentiation (LTP), post-tetanic potentiation (PTP), and short-term potentiation (STP) in the dentate gyrus
short excitatory postsynaptic current decay time ( J:201540 )
• decay time constants of both AMPA and NMDA excitatory postsynaptic currents (EPSCs) are reduced in granule cells
abnormal excitatory postsynaptic potential ( J:201540 )
• reduction of the field excitatory postsynaptic potential (fEPSP) slope across stimulus intensities (with a 16.5% reduction of fEPSPs at maximal test intensity of 600 uA) in the dentate gyrus indicating decreased synaptic transmission
• however, short-term postsynaptic plasticity is normal suggesting that the reduction in synaptic transmission is most likely due to a postsynaptic impairment in synaptic function and/or a reduction in the number of functional synapses
reduced AMPA-mediated synaptic currents ( J:201540 )
• mutants exhibit decreased AMPA-mediated synaptic transmission at MPP-granule cell synapses and decreased NMDA/AMPA ratio

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Coffin-Lowry syndrome DOID:3783 OMIM:303600
 J:201540




Genotype
MGI:3043197
hm2
Allelic
Composition		 Rps6ka3tm1.1Kry/Rps6ka3tm1.1Kry
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rps6ka3tm1.1Kry mutation (0 available); any Rps6ka3 mutation (13 available)
♀ 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
small frontal bone ( J:89403 )
• reduced size observed at E16 and at birth
small interparietal bone ( J:89403 )
• reduced size observed at E16 and at birth
small parietal bone ( J:89403 )
• reduced size observed at E16 and at birth

skeleton
large fontanelles ( J:89403 )
• opened fontanelles at birth
wide cranial sutures ( J:89403 )
• widened due to reduced cranial bones
small frontal bone ( J:89403 )
• reduced size observed at E16 and at birth
small interparietal bone ( J:89403 )
• reduced size observed at E16 and at birth
small parietal bone ( J:89403 )
• reduced size observed at E16 and at birth
decreased length of long bones ( J:89403 )
• reduced long bone length at 1 month of age
small vertebrae ( J:89403 )
• marked reduction in bone mass of 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 )
• marked reduction in bone mass of long bones at 1 and 2 months of age
abnormal bone ossification ( J:89403 )
• decreased bone formation rate, indicative of impaired osteoblast function
• normal number and function of osteoclasts
abnormal bone mineralization ( J:89403 )
• delay of skull mineralization observed at E16 and at birth

endocrine/exocrine glands
endocrine/exocrine gland phenotype ( J:89403 )
N
• no defects detected by histological analysis of the salivary, mammary, pancreas, pituitary, thyroid, or adrenal glands

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:89403 )
N
• no defects detected by histological analysis of the ear

hematopoietic system
hematopoietic system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the bone marrow

immune system
immune system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the thymus, spleen, or lymph nodes

digestive/alimentary system
digestive/alimentary phenotype ( J:89403 )
N
• no defects detected by histological analysis of the esophagus, stomach, duodenum, ileum, or colon

liver/biliary system
liver/biliary system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the liver

muscle
muscle phenotype ( J:89403 )
N
• no defects detected by histological analysis of striated muscle

renal/urinary system
renal/urinary system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the kidney or urinary bladder

reproductive system
reproductive system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the ovary, oviducts, uterus, or vagina

respiratory system
respiratory system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the nose, trachea, lung, or pleura

cardiovascular system
cardiovascular system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the heart or the aorta

taste/olfaction
taste/olfaction phenotype ( J:89403 )
N
• no defects detected by histological analysis of the olfactory mucosa and tongue

vision/eye
vision/eye phenotype ( J:89403 )
N
• no defects detected by histological analysis of the eye

nervous system
nervous system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the cerebral cortex, hippocampus, basal ganglia, cerebellum, or brain stem

integument
integument phenotype ( J:89403 )
N
• no defects detected by histological analysis of the skin

cellular

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




Genotype
MGI:3043224
ht3
Allelic
Composition		 Rps6ka3tm1.1Kry/Rps6ka3+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rps6ka3tm1.1Kry mutation (0 available); any Rps6ka3 mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiovascular system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the heart or the aorta

craniofacial
large fontanelles ( J:89403 )
• opened fontanelles at birth
wide cranial sutures ( J:89403 )
• widened due to reduced cranial bones
small frontal bone ( J:89403 )
• reduced size observed at E16 and at birth
small interparietal bone ( J:89403 )
• reduced size observed at E16 and at birth
small parietal bone ( J:89403 )
• reduced size observed at E16 and at birth

digestive/alimentary system
digestive/alimentary phenotype ( J:89403 )
N
• no defects detected by histological analysis of the esophagus, stomach, duodenum, ileum, or colon

endocrine/exocrine glands
endocrine/exocrine gland phenotype ( J:89403 )
N
• no defects detected by histological analysis of the salivary, mammary, pancreas, pituitary, thyroid, or adrenal glands
• no defects detected by histological analysis of the bone marrow

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:89403 )
N
• no defects detected by histological analysis of the ear

hematopoietic system
hematopoietic system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the bone marrow

immune system
immune system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the thymus, spleen, or lymph nodes

liver/biliary system
liver/biliary system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the liver

muscle
muscle phenotype ( J:89403 )
N
• no defects detected by histological analysis of striated muscle

renal/urinary system
renal/urinary system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the kidney or urinary bladder

reproductive system
reproductive system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the testis, epididymis, vas deferens, prostate, or seminal or accessory glands

respiratory system
respiratory system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the nose, trachea, lung, or pleura

skeleton
large fontanelles ( J:89403 )
• opened fontanelles at birth
wide cranial sutures ( J:89403 )
• widened due to reduced cranial bones
small frontal bone ( J:89403 )
• reduced size observed at E16 and at birth
small interparietal bone ( J:89403 )
• reduced size observed at E16 and at birth
small parietal bone ( J:89403 )
• reduced size observed at E16 and at birth
decreased length of long bones ( J:89403 )
• reduced long bone length at 1 month of age
• marked reduction in bone mass of long bones at 1 and 2 months of age
small vertebrae ( J:89403 )
• marked reduction in bone mass of vertebrae at 1 and 2 months of age
decreased bone mass ( J:89403 )
• marked reduction in bone mass of long bones at 1 and 2 months of age
abnormal bone ossification ( J:89403 )
• decreased bone formation rate, indicative of impaired osteoblast function
• normal number and function of osteoclasts
abnormal bone mineralization ( J:89403 )
• delay of skull mineralization observed at E16 and at birth

taste/olfaction
taste/olfaction phenotype ( J:89403 )
N
• no defects detected by histological analysis of the olfactory mucosa and tongue

vision/eye
vision/eye phenotype ( J:89403 )
N
• no defects detected by histological analysis of the eye

nervous system
nervous system phenotype ( J:89403 )
N
• no defects detected by histological analysis of the cerebral cortex, hippocampus, basal ganglia, cerebellum, or brain stem

integument
integument phenotype ( J:89403 )
N
• no defects detected by histological analysis of the skin

cellular

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




Genotype
MGI:5142270
cx4
Allelic
Composition		 Egfrwa2/Egfr+
Rps6ka3tm1.1Kry/Y
Tg(KRT5-SOS1)892A6Wag/0
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrwa2 mutation (3 available); any Egfr mutation (87 available)
Rps6ka3tm1.1Kry mutation (0 available); any Rps6ka3 mutation (13 available)
Tg(KRT5-SOS1)892A6Wag mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
decreased tumor growth/size ( J:175064 )
• tumor burden is reduced compared to in Tg(KRT5-SOS1)892A6Mka mice

integument




Genotype
MGI:5578346
ot5
Allelic
Composition		 Rps6ka3tm1.1Kry/Y
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rps6ka3tm1.1Kry mutation (0 available); any Rps6ka3 mutation (13 available)
♀ 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




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Send questions and comments to User Support. 		last database update
12/10/2024
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