All Phenotypes Hoxa10<tm1Ipc> MGI Mouse

azoospermia ( J:28593 )

• no mature sperm cells were detected in the seminiferous tubule lumen of adult criptorchid testes

short perineum ( J:28593 )

• on a mixed 129/Sv x C57BL/6 background, 6 of 14 male homozygotes with bilateral cryptorchism displayed a reduced anogenital distance

abnormal Sertoli cell morphology ( J:28593 )

• adult male homozygotes exhibited vacuolization of Sertoli cells

seminiferous tubule degeneration ( J:28593 )

• adult male homozygotes showed prominent lesions of the seminiferous tubules that were most likely secondary to cryptorchism

small testis ( J:28593 )

• mutant testes were smaller than wild-type

cryptorchism ( J:28593 )

• intra-abdominal testes were located near the bladder

bilateral cryptorchism ( J:28593 )

• Background Sensitivity: bilateral cryptorchism was fully penetrant on an inbred 129/Sv genetic background (5 of 5) but only partially penetrant on a mixed 129/Sv x C57BL/6 background (6 of 14; no scrotal sac and short ano-genital distance)

unilateral cryptorchism ( J:28593 )

• on a mixed 129/Sv x C57BL/6 background, 8 of 14 male homozygotes displayed unilateral cryptorchism, with the left testis always found undescended

uterus cyst ( J:28593 )

• 8 of 10 female homozygotes displayed numerous endometrial cysts

abnormal spermatogenesis ( J:28593 )

• adult male homozygotes showed a block of spermatogenesis and sloughing of germ cells at various stages of maturation

azoospermia ( J:28593 )

• no mature sperm cells were detected in the seminiferous tubule lumen of adult criptorchid testes

abnormal gubernaculum morphology ( J:28593 )

• at E18.5, the gubernaculum failed to differentiate at its distal end (gubernaculum bulb) and foreshorten as in wild-type control males

• in adult males, the gubernaculum was bilaterally present as a long cord connecting the testis to the abdominal wall

absent male inguinal canal ( J:28593 )

• the male inguinal canals were either absent or partially formed

absent scrotum ( J:28593 )

• the scrotal sac was either absent or partially formed

reduced female fertility ( J:28593 )

• only 6 of 10 female homozygotes gave birth to small litters over a 5-wk breeding period

• however, the female genital tract and internal organs appeared grossly normal

decreased litter size ( J:28593 )

• the litter size produced by fertile female homozygotes was smaller than that of wild-type females

male infertility ( J:28593 )

• males with bilateral cryptorchism were fully sterile

reduced male fertility ( J:28593 )

• male homozygotes were significantly subfertile

abnormal gubernaculum morphology ( J:28593 )

• at E18.5, the gubernaculum failed to differentiate at its distal end (gubernaculum bulb) and foreshorten as in wild-type control males

• in adult males, the gubernaculum was bilaterally present as a long cord connecting the testis to the abdominal wall

abnormal axial skeleton morphology ( J:28593 )

• Background Sensitivity: homozygotes displayed axial skeleton homeosis and rib alterations with both incomplete penetrance and variable expressivity, depending on the genetic background (not shown)

• vertebral alterations were not fully penetrant even on an inbred 129/Sv genetic background

decreased sternebra number ( J:28593 )

• in 9 of 30 homozygotes, the sternum lacked an entire sternebra

asymmetric sternocostal joints ( J:28593 )

• in 9 of 30 homozygotes, only 6 pairs of ribs contacted the sternum instead of 7 seen in wild-type mice

• the 7th ribs ended freely, thus resembling wild-type 8th ribs

• the 5th and 6th pairs of mutant ribs contacted the same sternebra

small xiphoid process ( J:28593 )

• in 9 of 30 homozygotes, the xiphoid process was reduced

increased rib number ( J:28593 )

• 28 of 30 homozygotes had an extra pair of ribs on the 21st vertebra due to an anterior homeotic transformation of L1 toward a T13 thoracic identity

short ribs ( J:28593 )

• each mutant rib from the 7th to the 12th (9 of 30 homozygotes), from the 9th to the 12th (6 of 30), and from the 10th to the 12th (15 of 30) was shortened and morphologically resembled the next caudal wild-type rib

thoracic vertebral transformation ( J:28593 )

• the T6-T12 region was partially transformed posteriorly by one segment

• in 15 of 30 homozygotes, T10 showed "lumbar-type" features resembling wild-type T11, whereas T9 showed features of wild-type T10

• T13 was a "neutral" segment between the posteriorly transformed (thoracic) and anteriorly transformed (lumbar) regions

lumbar vertebral transformation ( J:28593 )

• the first lumbar vertebra (L1) showed an anterior homeotic transformation toward a T13 thoracic identity

• the next five mutant lumbar vertebrae displayed partial anterior transformations

sacral vertebral transformation ( J:28593 )

• 3 of 30 homozygotes showed asymmetric transformation of S1 and S2; in these mutants, the S1 right side was properly articulated with the right ileum bone, whereas the S1 left side had L6-like transverse processes, with the left ilium bone articulating to S2

• only 1 of 30 homozygotes showed a full S1/S2 transformation

abnormal spinal nerve morphology ( J:28593 )

• homozygotes showed homeotic transformations of spinal nerves in lumbar region between T13 and L6, with each mutant nerve appearing morphologically similar to the closest rostral wild-type nerve

• the last thoracic nerve was transformed to an intercostal nerve identity

• the first lumbar nerved was transformed to a last thoracic nerve identity

• the second to fifth lumbar nerves were transformed to first to fourth lumbar nerve identity