Mouse Genome Informatics
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    Col11a1cho/Col11a1cho
involves: C57BL/6Fr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
N
• mice survive until at least 5 to 7 months of age (J:999)
• homozygotes die immediately after birth probably of asphyxia

craniofacial
• first evident at E15
• at E19, Meckel's cartilage is reduced
• first evident at E15
• dorsoventrally shortened head

skeleton
• first evident at E15
• at E19, Meckel's cartilage is reduced
• decreased mechanical strength of tracheal cartilage leading to asphyxia
• in the diaphysis of long bones, an abundance of calcified bone is observed with minimal formation of a marrow cavity
• at E19, endochondreal long bones display flared metaphyses
• at E19, endochondreal long bones are shorter than normal
• in contrast, membrane bones (e.g. skull and clavicle) appear normal
• at E19, endochondreal long bones are wider than normal
• matrix from costal cartilage of the reserve-cell zone displays a paucity of 250 A collagen fibrils
• unlike normal cartilage, which shows a uniform matrix in all zones, many abnormally large and wide (up to 2000 A in diameter) collagen fibrils with the "native" banded structure are observed in the proliferating zone
• reduced formation of a marrow cavity in long bones
• trabeculae are much wider in diameter and display significant fusion
• although chondrocytes in the reserve-cell zone of mutant limb bones appear initially normal in number, size, shape and distribution, they become highly variable in size and shape at later stages of development and, in many cases, are not distinguishable from proliferating chondrocytes
• chondrocytes in the reserve-cell zone of mutant ribs at the costochondral junction are not aligned in vertical columns but are otherwise normal
• chondrocytes in the proliferative zone of mutant ribs at the costochondral junction are reduced in number and abnormally arranged in oblique arrays, show an ameboid or fibroblastic morphology, and are often in contact with each other through long cytoplasmic processes
• at E13-E19, the matrix of all hyaline cartilage is heterogeneous, vesicular, and stains lighter than normal with toluidine blue, alcian blue, and PAS when formalin fixatives are used
• homozygotes display an absence of longitudinal columns in the proliferation and hypertrophic zones of the growth zone; instead, flattened chrondrocytes are found in arrays oblique to or perperndicular to the long axis of the bone
• at E19, unfixed epiphyseal cartilage is soft when touched with a probe
• at E19, the axial lengths of epiphyseal cartilage measured from the articular surface to metaphysis are normal but the diameter of mutant cartilage is significantly greater than normal
• calcified bone surrounds the lower part of the epiphysis and extends up to the sides of a bulbous mass of cartilage
• at E17, the cartilage ends of femur are enlarged, and large areas are devoid of chondrocytes in the proliferative zone
• cells of the proliferating zone appear flattened and abnormal in shape, and are generally aligned laterally (end-to-end) rather than in vertical columns
• at E19, decreased mineralization in the cartilage of the sternum and phalanges
• most bone formation occurs at the periosteum, with little being contributed by matrix calcification

respiratory system
• decreased mechanical strength of tracheal cartilage leading to asphyxia
• death by asphyxia due to defective tracheal rings

hearing/vestibular/ear
N
• mice exhibit normal Reissner's membrane, stria vascularis and tectorial membrane (J:999)
• more at the lower than upper turn
• the upper portion of the first turn is collapsed
• in the upper portion of the first turn
• in the upper portion of the first turn
• the lower first turn disappears completely
• as the test sound is decreased below 90 db, the latency is progressively extended and amplitude is reduced compared to in wild-type mice
• however, brainstem auditory evoked potential is normal at 90 db

limbs/digits/tail
• the distal portion of hindlimbs is externally rotated
• disproportionately short limbs first evident at E15

digestive/alimentary system
• first evident at E15

nervous system
• in the upper portion of the first turn
• in the upper portion of the first turn

Mouse Models of Human Disease
OMIM IDRef(s)
Marshall Syndrome; MRSHS 154780 J:5198
Stickler Syndrome, Type II; STL2 604841 J:22965