Phenotypes Associated with This Genotype

Genotype
MGI:3043197

• Allelic Composition: Rps6ka3^tm1.1Kry/Rps6ka3^tm1.1Kry
• 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

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

abnormal osteoblast physiology ( J:89403 )

♀

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 mineral density ( J:89403 )

♀

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

abnormal osteoblast physiology ( J:89403 )

♀

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