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Allele Symbol Allele Name Allele ID |
Hoxd11tm1Mrc targeted mutation 1, Mario R Capecchi MGI:1857963 |
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| Summary |
26 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• proximal carpal bones are fused
• one additional mutant allele at the Hoxa11 locus leads to carpal malformation as well
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• homeotic transformation of first sacral vertebra to lumbar vertebra 7
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• proximal carpal bones are fused
• one additional mutant allele at the Hoxa11 locus leads to carpal malformation as well
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 72% of mice exhibit a reduction in the calcaneus bone compared to in wild-type mice
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• shortened and malformed
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| N |
• male mice are fertile
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• 72% of mice exhibit a reduction in the calcaneus bone compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• some mice die prior to P30
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• some mice die prior to P30
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• some mice die prior to P30
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• the styloid apophyses is severely reduced and/or fused to the ulna and radius
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• all mice exhibit a reduction in the calcaneus bone compared to in wild-type mice
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• shortened and malformed
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• mice exhibit an indentation in the anterior region of the left kidney unlike in wild-type mice
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• one pair in eight pairs of kidneys exhibit small cysts
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• the medulla layer is smaller and more disorganized than in wild-type mice
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• proximal tubule lumens are more distinct than in Hoxa11tm1Ssp Hoxd11tm1Mrc homozygotes
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• mice exhibit fewer dilated tubules than in Hoxa11tm1Ssp Hoxd11tm1Mrc homozygotes
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• the styloid apophyses is severely reduced and/or fused to the ulna and radius
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• all mice exhibit a reduction in the calcaneus bone compared to in wild-type mice
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• one pair in eight pairs of kidneys exhibit small cysts
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• shortened and malformed
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only 0.72% of mice survive to P30
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• only 0.72% of mice survive to P30
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• some mice die shortly after birth
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• most mice die prior to P30
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• the styloid apophyses is severely reduced and/or fused to the ulna and radius
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• the calcaneus bone is reduced and fused to the fibula unlike in wild-type mice
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• shortened and malformed
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• the medulla layer is smaller and more disorganized than in wild-type mice
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• proximal tubule lumens are less distinct than in wild-type mice
• many proximal tubules are occluded
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• distal tubules are severely dilated
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• the styloid apophyses is severely reduced and/or fused to the ulna and radius
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• the calcaneus bone is reduced and fused to the fibula unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• despite altered vertebral identity, the number of vertebrae is normal
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• sacral vertebrae adopt lumbar vertebra morphologies
(J:84456)
• the sacral region is lumbar-like
(J:124112)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• anterior sacral vertebrae lack sacral wings unlike in wild-type mice
• however, posterior sacral elements possess sacral wings
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|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the proximal carpal bones, navicular lunate and psiform are fused in all mice
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
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• 7 instead of 6
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• the proximal carpal bones, navicular lunate and psiform are fused in all mice
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• hypoplasia is more severe than in mice with 4 mutant alleles
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• kidneys, when present, are in a more caudal and ventral location
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• occasionally seen
• more frequent than in mice with 4 mutant alleles
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• at E11.5, the bud forms but frequently migrates away from the metanephric mesenchyme
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• hypoplasia is more severe than in mice with 4 mutant alleles
|
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• kidneys, when present, are in a more caudal and ventral location
|
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• occasionally seen
• more frequent than in mice with 4 mutant alleles
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• at E11.5, the bud forms but frequently migrates away from the metanephric mesenchyme
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
|
• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
|
• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
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• 8 instead of 6
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• bilateral kidney hypoplasia present at birth
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• occasionally seen
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• at E13.5 the ureter's route to the kidney is circuitous and abnormal; transversing anteriorly around the kidney to the lateral side before entering the kidney
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
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• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
|
• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
|
• forearm bones are shorter and broader than in wild-type mice and Hoxa11tm1Mrc homozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• show reproductive defects similar to those of mice homozygous for Hoxa11tm1Mrc
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• show reproductive defects similar to those of mice homozygous for Hoxa11tm1Mrc
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• show reproductive defects similar to those of mice homozygous for Hoxa11tm1Mrc
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• show reproductive defects similar to those of mice homozygous for Hoxa11tm1Mrc
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E11.5 increased apoptosis is seen in the condensed blastemal mesenchyme
• absence of metanephric kidney development at E13.5 and birth
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• at E11.5 increased apoptosis is seen in the condensed blastemal mesenchyme
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• absence of metanephric kidney development at E13.5 and birth
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• absence of bud formation at E11.5
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• at E11.5 increased apoptosis is seen in the condensed blastemal mesenchyme
|
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• at E11.5 increased apoptosis is seen in the condensed blastemal mesenchyme
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• hypoplasia is more severe than in mice with 4 mutant alleles
|
|
• kidneys, when present, are in a more caudal and ventral location
|
|
• occasionally seen
• more frequent than in mice with 4 mutant alleles
|
|
• at E11.5, the bud forms but frequently migrates away from the metanephric mesenchyme
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• the proximal carpal bones and navicular lunate are fused in four of five mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
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• 7 instead of 6
|
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• the proximal carpal bones and navicular lunate are fused in four of five mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
• forearm bones are shorter and broader than in wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• proximal carpal bones are fused
• one additional mutant allele at either locus leads to carpal malformation as well
|
|
• homeotic transformation of first sacral vertebra to lumbar vertebra 7
|
|
• proximal carpal bones are fused
• one additional mutant allele at either locus leads to carpal malformation as well
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• most pups die perinatally of kidney dysfunction
• only about 20% of the expected number of homozygotes survive to weaning
|
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• deformed navicular lunate
• triangular bone either fused to distal carpals or missing
|
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• pisiform bone is missing
• triangular bone is either missing or fused to distal carpals
|
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• proximal tarsal bones are absent
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• first and second phalanges of digit 3 often fused
• second phalange of digits 2 and 5 often missing
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• almost completely absent
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• almost completely absent
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• never fuses distally with tibia
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• reduced in length
|
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• occasionally one caudal vertebra is lost
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• homeotic transformation of thoracic vertebra 13 to lumbar vertebra 1
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• nine rather than six lumbar vertebrae
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• non-transformed sacral vertebrae fail to fuse
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• occasionally only one is present
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• homeotic transformation of sacral vertebrae 1 and 2 to lumbar vertebrae 8 and 9
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• absence of radius and ulna results in forepaw being rotated 90o from axis
• autopod abnormalities already becoming established at E13.5
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• digits 1 to 3 curved preaxially
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• digits 1 to 3 joined by overlying skin
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• abnormal zeugopod abnormalities already becoming established at E13.5
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• deformed navicular lunate
• triangular bone either fused to distal carpals or missing
|
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• pisiform bone is missing
• triangular bone is either missing or fused to distal carpals
|
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• first and second phalanges of digit 3 often fused
• second phalange of digits 2 and 5 often missing
|
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• proximal tarsal bones are absent
|
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• almost completely absent
|
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• almost completely absent
|
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• never fuses distally with tibia
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• reduced in length
|
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• occasionally one caudal vertebra is lost
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• more caudal and medial in location
• occasionally "dumb-bell" shaped
• lateral rather than medial insertion of ureter
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• poorly developed in newborns
• little nephrogenic activity in the subscapular region of the kidney
• thick cortical tissue in adult kidneys
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• poorly developed in newborns
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• mesenchyme surrounding tips of nephric ducts does not condense and is easily fragmented
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• poorly developed in the adult kidney
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• severe renal hypoplasia in newborns
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• those present in the adult are well developed and the glomerulae are mor or less normal
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• one or both kidneys often absent
|
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• single outgrowth from the caudal segment of the Wolffian duct develops normally at E11.5
|
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• defects in branching morphology evident by E13.5 although elongation continues
• absence of epithelial structures in ureteric bud branches
• branch termini are absent in mid ventral kidney at E13.5 but not in poles and dorsum
|
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• transformed toward a morphology similar to the epidymis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• bilateral kidney hypoplasia that is less severe than in Hoxa11tm1Mrc Hoxd11tm1Mrc double homozygotes
|
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• occasionally seen
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 07/05/2024 MGI 6.24 |
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