Phenotypes associated with this allele

• Allele Symbol: Is(17;In2)1Gso
• Allele Name: insertion, Chr 17 piece into inverted Chr 2, Generoso 1
• Allele ID: MGI:4360978
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Is(17;In2)1Gso/Is(17;In2)1Gso	involves: 101/Rl * C3H/Rl * C57BL/E * SEC/Rl	MGI:4360983
ot2	Is(17;In2)1Gso/0	involves: 101/Rl * C3H/Rl * C57BL/E * SEC/Rl	MGI:4360985

Genotype
MGI:4360983

hm1

• Allelic Composition: Is(17;In2)1Gso/Is(17;In2)1Gso
• Genetic Background: involves: 101/Rl * C3H/Rl * C57BL/E * SEC/Rl

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

pigmentation

darkened coat color ( J:10399 )

• jet black coat color

limbs/digits/tail

abnormal limb morphology ( J:10399 )

• in the most severe instances hind feet can have only 1 digit or the foot can be articulated with a projection from the side of the tibia

• although the defects are bilateral they are generally asymmetric

abnormal autopod rotation ( J:10399 )

• in some homozygotes hind feet do not point in the correct direction

brachydactyly ( J:10399 )

• brachydactyly is sometimes observed

oligodactyly ( J:10399 )

• in all homozygotes at least 2 digits on each extremity are absent

syndactyly ( J:10399 )

• bony syndactyly is sometimes observed

abnormal limb bone morphology ( J:10399 )

abnormal carpal bone morphology ( J:10399 )

absent carpal bone ( J:10399 )

• in all homozygotes this is either aplasia or hypoplasia of some carpals and many tarsals

fused carpal bones ( J:10399 )

• observed in some, but not all, homozygotes

fused phalanges ( J:10399 )

absent tarsus bones ( J:10399 )

• in all homozygotes this is either aplasia or hypoplasia of some carpals and many tarsals

fused tarsal bones ( J:10399 )

• observed in some, but not all, homozygotes

abnormal radius morphology ( J:10399 )

absent radius ( J:10399 )

• the severity of radioulnar synostosis varies and in some homozygotes there appears to be no radius

abnormal ulna morphology ( J:10399 )

abnormal fibula morphology ( J:10399 )

absent fibula ( J:10399 )

• homozygotes have complete fibular aplasia

abnormal patella morphology ( J:10399 )

• in some homozygotes there is malpositioning of the patella

skeleton

abnormal limb bone morphology ( J:10399 )

abnormal carpal bone morphology ( J:10399 )

absent carpal bone ( J:10399 )

• in all homozygotes this is either aplasia or hypoplasia of some carpals and many tarsals

fused carpal bones ( J:10399 )

• observed in some, but not all, homozygotes

fused phalanges ( J:10399 )

absent tarsus bones ( J:10399 )

• in all homozygotes this is either aplasia or hypoplasia of some carpals and many tarsals

fused tarsal bones ( J:10399 )

• observed in some, but not all, homozygotes

abnormal radius morphology ( J:10399 )

absent radius ( J:10399 )

• the severity of radioulnar synostosis varies and in some homozygotes there appears to be no radius

abnormal ulna morphology ( J:10399 )

abnormal fibula morphology ( J:10399 )

absent fibula ( J:10399 )

• homozygotes have complete fibular aplasia

abnormal patella morphology ( J:10399 )

• in some homozygotes there is malpositioning of the patella

synostosis ( J:10399 )

• radioulnar synostosis is found in all homozygotes

renal/urinary system

abnormal kidney morphology ( J:10399 )

hydronephrosis ( J:10399 )

• 6 of 9 post-wean homozygotes with limb deformity also have hydronephrosis and hydroureter

renal hypoplasia ( J:10399 )

• 5 of 80 fetuses at embryonic day 17 have renal hypoplasia

absent kidney ( J:10399 )

• in 2 of 80 fetuses at embryonic day 17

dilated ureter ( J:10399 )

• dilation of one or both ureters is found in 10 of 80 fetuses at embryonic day 17

hydroureter ( J:10399 )

• 6 of 9 post-wean homozygotes with limb deformity also have hydronephrosis and hydroureter

integument

darkened coat color ( J:10399 )

• jet black coat color

Genotype
MGI:4360985

ot2

• Allelic Composition: Is(17;In2)1Gso/0
• Genetic Background: involves: 101/Rl * C3H/Rl * C57BL/E * SEC/Rl

reproductive system

reduced male fertility ( J:10399 )

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