Phenotypes associated with this allele

• Allele Symbol: can
• Allele Name: cartilage anomaly
• Allele ID: MGI:1856814
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	can/can	STOCK Tmc1^dn	MGI:2659026

Genotype
MGI:2659026

hm1

• Allelic Composition: can/can
• Genetic Background: STOCK Tmc1^dn

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

mortality/aging

postnatal lethality ( J:5194 )

• most homozygotes die by 10 days of age

• an exceptional homozygote survived to 38 days of age

craniofacial

decreased cranium height ( J:5194 )

• homozygotes display shortened skulls, first evident at E17

malocclusion ( J:5194 )

• homozygotes exhibit malocclusion of the incisors

short maxilla ( J:5194 )

• homozygotes display a significantly shortened upper jaw

domed cranium ( J:5194 )

• homozygotes display domed skulls, first evident at E17

growth/size/body

malocclusion ( J:5194 )

• homozygotes exhibit malocclusion of the incisors

decreased birth weight ( J:5482 )

• homozygotes show a 15.5% reduction in birth weight relative to wild-type mice

decreased body weight ( J:5194 )

• at 18 days of age, surviving homozygotes display a mean weight of 2.7 g vs 5.4 g in wild-type mice

slow postnatal weight gain ( J:5194 )

• homozygotes gain weight slowly relative to wild-type littermates

abnormal neck muscle morphology ( J:5194 )

• homozygotes exhibit ectopic calcification of the neck muscles

decreased fetal size ( J:5194 )

• at E17, mutant fetuses are smaller than wild-type

distended abdomen ( J:5194 )

• homozygotes display bulging abdomens from birth onwards

limbs/digits/tail

short limbs ( J:5194 )

• homozygotes display short limbs, first evident at E17

skeleton

abnormal appendicular skeleton morphology ( J:5194 )

• all appendicular skeletons are shortened

abnormal axial skeleton morphology ( J:5194 )

• all axial skeletons are shortened, most severely in the tail

decreased cranium height ( J:5194 )

• homozygotes display shortened skulls, first evident at E17

malocclusion ( J:5194 )

• homozygotes exhibit malocclusion of the incisors

short maxilla ( J:5194 )

• homozygotes display a significantly shortened upper jaw

domed cranium ( J:5194 )

• homozygotes display domed skulls, first evident at E17

abnormal rib morphology ( J:5194 )

• the junction of osseous and cartilaginous rib shows a spatulate morphology

short ribs ( J:5194 )

abnormal thoracic cage shape ( J:5194 )

• the rib cage is flattened dorsoventrally and therefore decreased in volume

small thoracic cage ( J:5194 )

scoliosis ( J:5194 )

• homozygotes display significant scoliosis of the thoracic vertebral column

abnormal chondrocyte morphology ( J:5194 )

• in newborn homozygotes, the chondrocytes of the head of the femur are tightly packed with less interstitial material than normal

• the nucleus of mutant neonatal chondrocytes lacks the prominent electron-dense areas observed in wild-type chondrocytes

• unlike wild-type, mutant midzone chondrocytes display polar deposits of darkly stained glycogen in the cytoplasm

increased chondrocyte number ( J:5194 )

• in the neonatal femur head, the number of chondorcytes per unit area is increased by ~50%

abnormal skeleton development ( J:5194 )

• the bones of mutant skeletons are shorter and thicker than normal

abnormal cartilage development ( J:5194 , J:5479 , J:5482 )

• at E17 (but not at E14), homozygotes display abnormal cartilage in the knee joint, with crowding of chondrocytes (J:5194)

• at P14, all cartilaginous entities are reduced, with an increased number of cells per unit area embedded in a sparse, poorly staining matrix (J:5194)

• light microscopy indicates a deficiency in cartilaginous matrix while EM suggests that the collagen of the matrix remains normal while the mucopolysaccharide component is reduced (J:5194)

• at E17, homozygotes display a reduction in the rate of total protein synthesis in cartilage which persists until P3 (J:5479)

• after P3, protein synthesis (including collagen synthesis) is increased to levels above normal, as is incorporation of glucosamine into mucopolysaccharides and the levels of uridine diphosphoglucose dehydrogenase and UDP-glucose-4-epimerase (two mucopolysaccharide synthetic enzymes) (J:5479)

• explanted cartilage form 3-day-old homozygotes displays increased protein and mucopolysaccharide synthesis; however, injection of [U-¹⁴C]glucose fails to duplicate the increased mucopolysaccharide formation (J:5482)

• transplanted mutant tail vertebrae grown in the renal capsule of wild-type siblings grows less well than those of wild-type littermates, suggesting that the increased metabolism noted in vitro is not observed in in vivo development (J:5482)

abnormal epiphyseal plate morphology ( J:5194 )

• homozygotes display reduced ossification of the epiphyseal plates

abnormal long bone epiphyseal plate proliferative zone ( J:5194 )

• in newborn femoral cartilage, the proliferating cartilage columns are poorly aligned

decreased width of hypertrophic chondrocyte zone ( J:5194 )

• in newborn femoral cartilage, the zone of hypertrophic cartilage is less than half the normal thickness

• rare vacuolated chondrocytes are observed and the line of calcification is abnormal

decreased long bone epiphyseal plate size ( J:5194 )

• in newborn femoral cartilage, the epiphyseal plate is thinner than normal

muscle

abnormal neck muscle morphology ( J:5194 )

• homozygotes exhibit ectopic calcification of the neck muscles

calcified muscle ( J:5194 )

• homozygotes exhibit ectopic calcification of the neck muscles