Phenotypes associated with this allele

• Allele Symbol: Chsy1^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Pharmaceuticals
• Allele ID: MGI:5007063
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chsy1^tm1Lex/Chsy1^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:5318221
ht2	Chsy1^skt/Chsy1^tm1Lex	mixed	MGI:6414616

Genotype
MGI:5318221

hm1

• Allelic Composition: Chsy1^tm1Lex/Chsy1^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

skeleton

autoimmune arthritis ( J:171883 )

abnormal limb bone morphology ( J:182757 )

• short at E18.5 but grossly normal in adults

• menisci in the knees fail to mineralize and appear torn and misshapen in adults

abnormal carpal bone morphology ( J:182757 )

• abnormal joint between hamate and triquetrum due to possible bifurcation events

• abnormal joint between trapezium and scaphoid, bones are not well separated

abnormal phalanx morphology ( J:182757 )

• digit bifurcation at E18.5

• chondroplasia

• misshapen phalanges

abnormal metacarpal bone morphology ( J:182757 )

• fusion of metacarpals with one of the bifurcated phalanges

abnormal metatarsal bone morphology ( J:182757 )

• defects similar to forelimbs

abnormal long bone hypertrophic chondrocyte zone ( J:182757 )

• area of columnar proliferation is somewhat disorganized

abnormal axial skeleton morphology ( J:182757 )

abnormal craniofacial bone morphology ( J:182757 )

• indistinct head and jaw elements at E13.5

abnormal rib morphology ( J:182757 )

short ribs ( J:182757 )

• ribs fail to extend as far ventrally as in controls at E13.5

thin ribs ( J:182757 )

• at E13.5

abnormal bone structure ( J:182757 )

• reduced bone density and compromised bone architecture

• decreased overall bone density in both fore- and hind paws of adults

decreased bone mineral density of vertebrae ( J:171883 )

• decreased bone mineral density in vertebrae

decreased bone mineral content ( J:171883 )

• decreased total body bone mineral content

decreased bone mineral density of femur ( J:171883 )

• decreased bone mineral density in femur

decreased volumetric bone mineral density ( J:171883 )

• decreased total body volumetric bone mineral density

decreased trabecular bone volume ( J:171883 )

decreased bone trabecula number ( J:171883 )

decreased trabecular bone connectivity density ( J:171883 )

decreased trabecular bone thickness ( J:171883 )

delayed chondrocyte differentiation ( J:182757 )

• delayed chondrocyte differentiation and maturation at E14.5

• delay in chondrocyte development less severe perinatally

chondrodystrophy ( J:182757 )

• impaired chondrogenesis by E13.5

• hypoplastic skeletal elements

• mild chondroplasia at E18.5

delayed bone mineralization ( J:182757 )

• mineralization of metacarpals and forelimbs is delayed at E18.5

nervous system

microgliosis ( J:286529 )

• observed in the retina

limbs/digits/tail

brachypodia ( J:182757 )

• stubby paws and digits in adults

abnormal limb bone morphology ( J:182757 )

• short at E18.5 but grossly normal in adults

• menisci in the knees fail to mineralize and appear torn and misshapen in adults

abnormal carpal bone morphology ( J:182757 )

• abnormal joint between hamate and triquetrum due to possible bifurcation events

• abnormal joint between trapezium and scaphoid, bones are not well separated

abnormal phalanx morphology ( J:182757 )

• digit bifurcation at E18.5

• chondroplasia

• misshapen phalanges

abnormal metacarpal bone morphology ( J:182757 )

• fusion of metacarpals with one of the bifurcated phalanges

abnormal metatarsal bone morphology ( J:182757 )

• defects similar to forelimbs

short limbs ( J:182757 )

craniofacial

abnormal craniofacial bone morphology ( J:182757 )

• indistinct head and jaw elements at E13.5

behavior/neurological

weakness ( J:171883 )

• impaired motor strength

hematopoietic system

increased mean corpuscular hemoglobin ( J:171883 )

decreased red blood cell distribution width ( J:171883 )

microgliosis ( J:286529 )

• observed in the retina

immune system

microgliosis ( J:286529 )

• observed in the retina

autoimmune arthritis ( J:171883 )

vision/eye

abnormal retina morphology ( J:286529 )

• increased ectopically localized synapses in the retina

retina degeneration ( J:171883 )

Genotype
MGI:6414616

ht2

• Allelic Composition: Chsy1^skt/Chsy1^tm1Lex
• Genetic Background: mixed

growth/size/body

decreased body size ( J:286529 )

hematopoietic system

microgliosis ( J:286529 )

• in the retina

limbs/digits/tail

kinked tail ( J:286529 )

vision/eye

abnormal retina morphology ( J:286529 )

• increased number of ectopically localized photoreceptor synapses, increased microglia, and thin outer nuclear layer

thin retina outer nuclear layer ( J:286529 )

immune system

microgliosis ( J:286529 )

• in the retina

nervous system

microgliosis ( J:286529 )

• in the retina