Phenotypes associated with this allele

• Allele Symbol: Os
• Allele Name: Os
• Allele ID: MGI:1857646
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Os/Os	involves: 101 * C3H	MGI:4398747
ht2	Os/Os^+	B6.ROP/Le-Os/J	MGI:5013814
ht3	Os/Os^+	involves: 101 * C3H	MGI:2167344
ht4	Os/Os^+	involves: 101 * C3H * CBA/Gr	MGI:3778771
ht5	Os/Os^+	ROP/GnLeJ	MGI:3778926

Genotype
MGI:4398747

hm1

• Allelic Composition: Os/Os
• Genetic Background: involves: 101 * C3H

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

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance ( J:5017 )

embryo

embryonic growth arrest ( J:5017 , J:5768 )

• cells of the developing embryo appear abnormal between the 7th and 8th division with suggestion of mitotic dysfunction (J:5017)

• the most striking abnormalities are seen by the middle of the 4th day when many embryonic cells contain fragmented, pycnotic chromatin and lack nuclear membrane and nucleolus (J:5017)

• in culture, blastocysts show rapid degeneration of the inner cell mass compared with control embryos (J:5768)

decreased embryo size ( J:5768 )

• noted as early as E4.5

cellular

abnormal mitosis ( J:5768 )

increased mitotic index ( J:5768 )

• E4.5 embryos have an index nine times that of controls

• more than one third of cells contain mitotic figures

growth/size/body

decreased embryo size ( J:5768 )

• noted as early as E4.5

Genotype
MGI:5013814

ht2

• Allelic Composition: Os/Os⁺
• Genetic Background: B6.ROP/Le-Os/J

renal/urinary system

abnormal renal glomerulus morphology ( J:32764 )

• glomerular volume is increased 2-fold relative to controls at 3 months of age and 3-fold at 5 months of age but the glomerulosclerosis found on the ROP background is absent with only a minimal increase in extracellular matrix at 5 months of age

• the mean cell number per glomerulus is increased 21% relative to controls and the glomerular labeling index is increased 2.6 fold at 3 and 5 months of age

expanded mesangial matrix ( J:32764 )

• only a minimal increase in extracellular matrix is noted at 5 months of age

decreased renal glomerulus number ( J:32764 )

• mean glomerular number per kidney is reduced by 50% at 3 months of age

decreased kidney weight ( J:32764 )

• 34% reduction in kidney weight compared with controls at 3 months of age

Genotype
MGI:2167344

ht3

• Allelic Composition: Os/Os⁺
• Genetic Background: involves: 101 * C3H

embryo

abnormal limb bud morphology ( J:5107 )

• retardation of the mesodermal growth in the preaxial area of the footplate of the forelimb buds is found at embryonic day 10 hour 16 and in the hindlimb buds at embryonic day 10 hour 21

• although normal at early embryonic day 11, by embryonic day 11 to 12 there are cytolytic changes, cellular degeneration, in the preaxial part of the footplate mesoderm, leading to coalescence of the second and third digital rudiments

limbs/digits/tail

abnormal limb bud morphology ( J:5107 )

• retardation of the mesodermal growth in the preaxial area of the footplate of the forelimb buds is found at embryonic day 10 hour 16 and in the hindlimb buds at embryonic day 10 hour 21

• although normal at early embryonic day 11, by embryonic day 11 to 12 there are cytolytic changes, cellular degeneration, in the preaxial part of the footplate mesoderm, leading to coalescence of the second and third digital rudiments

Genotype
MGI:3778771

ht4

• Allelic Composition: Os/Os⁺
• Genetic Background: involves: 101 * C3H * CBA/Gr

mortality/aging

prenatal lethality ( J:13049 )

limbs/digits/tail

abnormal limb mesenchyme morphology ( J:12942 )

• a reduction in the amount of mesenchyme in the preaxial area of the foot plate is observed by E13

abnormal carpal bone morphology ( J:13049 )

• ulnar end of the hamatum articulates with metacarpal 4, but does not reach metacarpal 5

• metacarpal 5 is in a fixed state of abduction

fused carpal bones ( J:13049 )

• extensive fusions in carpus

oligodactyly ( J:12942 , J:13049 )

• digit loss arises by fusion of digits 2 and 3, however, digit 2 is often thinner than normal and may vanish without fusion to digit 3 (J:12942)

• digits 2 and 3 are typically involved (J:13049)

• different digits in the same foot can be both polydactylous and oligodactylous (J:13049)

polydactyly ( J:13049 )

• exhibited in the hindfeet of some animals

• different digits in the same foot can be both polydactylous and oligodactylous

syndactyly ( J:12942 , J:13049 )

• hard tissue fusions start at the basal phalanges and spread distally (J:12942)

• all fusions between metacarpal and metatarsals are secondary (J:12942)

• all four feet are affected, although the forefeet are less severely affected than the hindfeet (J:13049)

• syndactylism primarily involves digits 2 and 3 (J:13049)

• nearly all animals exhibit osseous fusions of the bases of metacarpalia or metatarsalia 4 and 5 (J:13049)

• some animals exhibit fusion of metatarsalia 1 and 2 (J:13049)

• most fusions are secondary, only a few of the fusions are primary hard tissue in both embryo and adult (J:13049)

• in the tarsus, only the cuneiforme 3 and cuboideum fusion is primary (J:13049)

polysyndactyly ( J:13049 )

• exhibited in some animals

abnormal tarsal bone morphology ( J:13049 )

• long axis of calcaneus and metararsalia are not parallel, as a result hindfeet point outward

abnormal calcaneum morphology ( J:13049 )

• calcaneus frequently lacks process trochlearis

abnormal navicular morphology ( J:13049 )

• naviculare is narrow as compared to wildtype

fused tarsal bones ( J:13049 )

• extensive and varied fusions in tarsus, which includes a solid fusion between talus and calcaneus

• fusion occurs between the naviculare and a composite of cuneiforme 3 and cuboideum in all animals

abnormal embryonic autopod plate morphology ( J:12942 )

• beginning at E11 the preaxial border of the foot plate is flattened, displaying an ovoid rather than circular outline

• blastemata are crowded and small

• interdigital area between digits 2 and 3 is reduced by E13

• in most cases, digit 2 is formed closer to and may fuse to digit 3

skeleton

abnormal carpal bone morphology ( J:13049 )

• ulnar end of the hamatum articulates with metacarpal 4, but does not reach metacarpal 5

• metacarpal 5 is in a fixed state of abduction

fused carpal bones ( J:13049 )

• extensive fusions in carpus

abnormal tarsal bone morphology ( J:13049 )

• long axis of calcaneus and metararsalia are not parallel, as a result hindfeet point outward

abnormal calcaneum morphology ( J:13049 )

• calcaneus frequently lacks process trochlearis

abnormal navicular morphology ( J:13049 )

• naviculare is narrow as compared to wildtype

fused tarsal bones ( J:13049 )

• extensive and varied fusions in tarsus, which includes a solid fusion between talus and calcaneus

• fusion occurs between the naviculare and a composite of cuneiforme 3 and cuboideum in all animals

embryo

abnormal embryonic tissue morphology ( J:13049 )

• at E14 projections of digits 2 and 3 at the edge of the foot plate are closer together than wildtype and there is only a single basal phalanx common to both digits

• at E14-5 cuneiforme 3 and cuboideum have fused to a single element and are elongated in a diagonal direction rather than circular

• at E16 metacarpalia 4 and 5 are fused

abnormal limb mesenchyme morphology ( J:12942 )

• a reduction in the amount of mesenchyme in the preaxial area of the foot plate is observed by E13

Genotype
MGI:3778926

ht5

• Allelic Composition: Os/Os⁺
• Genetic Background: ROP/GnLeJ

renal/urinary system

abnormal kidney morphology ( J:3842 )

• renal mass is reduced by 38% in comparison to wild-type

abnormal kidney collecting duct principal cell morphology ( J:3842 )

• the principal cell type in the collecting duct is hypertrophied, with the greatest degree of hypertrophy in the nephrectomized heterozygotes

decreased kidney weight ( J:28323 )

• females at 3 months of age have a 24% reduction in kidney weight but no concomitant change in body or heart weight

decreased compensatory renal growth ( J:3842 )

• in nephrectomized heterozygote males, compensatory kidney growth is reduced in comparison to controls

abnormal nephron morphology ( J:28323 )

• hypertrophied nephrons in females at 3 months of age

abnormal renal glomerulus morphology ( J:3842 , J:28323 , J:102341 , J:166810 )

• size of glomeruli is slightly increased in left kidney following unilateral nephrectomy as compared to control (J:3842)

• in females at 3 weeks of age there is a 34% increase in mean cell number per glomerulus compared with controls (J:28323)

• Background Sensitivity: this mutation on a C57BL/6J background does not show significant glomerular histopathology (J:102341)

• bone marrow transplant from heterozygotes into wild-type coisognic hosts results in mesangial sclerosis and glomerular hypertrophy (J:166810)

glomerulonephritis ( J:28323 )

• glomerular cross-sectional area in females assessed at 3 months of age is increased by 1.8 fold compared with controls, although the fraction of the cortex occupied by glomeruli remains the same between mutant and control

expanded mesangial matrix ( J:28323 , J:166810 )

• in females at 3 months of age mesangial sclerosis affects all glomeruli and is evenly distributed in the cortical and justaglomerular regions, with increased extracellular matrix including type IV collagen and tenascin, but no inflammatory cells are found (J:28323)

glomerulosclerosis ( J:28323 , J:32764 , J:166810 )

• Background Sensitivity: on the ROP background but not the C57BL/6J background at 5 months of age there is severe and diffuse glomerulosclerosis restricted to the mesangial regions, with a large excess of type IV collagen and tenascin in the mesangial areas (J:32764)

decreased renal glomerulus number ( J:3842 , J:28323 )

• midtranverse sections from the left kidney indicate that glomeruli density is reduced by 50% in heterozygotes (J:3842)

• females assessed at 3 months of age have a 55% reduction in the mean glomerular number per kidney (J:28323)

abnormal proximal convoluted tubule morphology ( J:3842 )

• segments of proximal tubule, especially pars recta, exhibit hypertrophy

renal tubule hypertrophy ( J:3842 )

• diameters of the proximal convoluted and straight tubules are increased in size as compared to wild-type

• tubular epithelial cells are hypertrophied in both heterozyote and nephrectomized heterozygotes, however, the magnitude of hypertrophy is increased in unaltered mice

increased urine flow rate ( J:3842 )

• rate of urine flow is increased in heterozygotes as compared to controls, however glomerular filtration rate is not affected

• excretion of creatinine, sodium and potassium is similar to control

homeostasis/metabolism

increased blood urea nitrogen level ( J:3842 )

• BUN levels are increased by almost 50% in both heterozyote and nephrectomized heterozygotes as compared to controls

immune system

glomerulonephritis ( J:28323 )

• glomerular cross-sectional area in females assessed at 3 months of age is increased by 1.8 fold compared with controls, although the fraction of the cortex occupied by glomeruli remains the same between mutant and control