All Phenotypes Hoxd13<tm1Ddu> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Hoxd13^tm1Ddu
targeted mutation 1, Denis Duboule
MGI:1857871

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)	MGI:2178096
hm2	Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	involves: 129S2/SvPas	MGI:3587033
hm3	Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	involves: 129S2/SvPas * C57BL/6	MGI:3720781
ht4	Hoxd13^tm1Ddu/Hoxd13⁺	involves: 129S2/SvPas	MGI:3587034
ht5	Hoxd13^spdh/Hoxd13^tm1Ddu	involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J	MGI:3802654
cx6	Hoxd12^tm2Ddu/Hoxd12⁺ Hoxd13^tm1Ddu/Hoxd13⁺	either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)	MGI:2178077
cx7	Hoxa13^tm1Ipc/Hoxa13^tm1Ipc Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721899
cx8	Hoxa13^tm2Ipc/Hoxa13^tm2Ipc Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721901
cx9	Hoxa13^tm2Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721896
cx10	Hoxa13^tm1Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13⁺	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721892
cx11	Hoxa13^tm2Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13⁺	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721893
cx12	Hoxa13^tm1Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721895
cx13	Hoxa13^tm1Ipc/Hoxa13^tm1Ipc Hoxd13^tm1Ddu/Hoxd13⁺	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721897
cx14	Hoxa13^tm2Ipc/Hoxa13^tm2Ipc Hoxd13^tm1Ddu/Hoxd13⁺	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	MGI:3721898
cx15	Evx2^tm2Ddu/Evx2^tm2Ddu Hoxd13^tm1Ddu/Hoxd13^tm1Ddu	involves: 129S2/SvPas * C57BL/6	MGI:3720779

Allelic Composition	Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

growth/size/body

decreased body weight ( J:15507 )

• weight deficit (~10%) for first few months of life

reproductive system

male infertility ( J:15507 )

embryo

abnormal embryonic tissue morphology ( J:15507 )

• prechondrogenic patterns of cellular condensations of digits delayed

limbs/digits/tail

abnormal carpal bone morphology ( J:15507 )

• sesamold bones are either absent, reduced, or partially fused to the phalangeal bone

• the large bone (d4) of the carpus is split into two carpal bones

abnormal digit morphology ( J:15507 )

• digits III and IV are stiffer than wild-type

abnormal phalanx morphology ( J:15507 )

• reduction and deformation of phalangeal bones

brachyphalangia ( J:15507 )

• the second phalanges are either reduced in digits III and IV, or absent in digits II and V

brachydactyly ( J:15507 )

• reduction in size of forelimb digits, especially digits II and IV, and the hindlimb digits, especially digits I, II, and V

polydactyly ( J:15507 )

• about 50% have an additional rudimentary digit posteriorly

syndactyly ( J:15507 )

• fusion of bones is observed at articulations

• the metacarpal and first phalange of digit II are often fused in a single bone rod

• the sesamold bones are sometimes partially fused to the phalangeal bone

short metacarpal bones ( J:15507 )

• reduction and deformation of metacarpal bones

abnormal metatarsal bone morphology ( J:15507 )

• metatarsal I is largely deformed with an anterior protrusion

short metatarsal bones ( J:15507 )

• shorter and thicker metatarsal bones

skeleton

abnormal carpal bone morphology ( J:15507 )

• sesamold bones are either absent, reduced, or partially fused to the phalangeal bone

• the large bone (d4) of the carpus is split into two carpal bones

abnormal phalanx morphology ( J:15507 )

• reduction and deformation of phalangeal bones

brachyphalangia ( J:15507 )

• the second phalanges are either reduced in digits III and IV, or absent in digits II and V

short metacarpal bones ( J:15507 )

• reduction and deformation of metacarpal bones

abnormal metatarsal bone morphology ( J:15507 )

• metatarsal I is largely deformed with an anterior protrusion

short metatarsal bones ( J:15507 )

• shorter and thicker metatarsal bones

sacral vertebral fusion ( J:15507 )

• sacral vertebra 4 (S4) fused to sacral vertebra 3 (S3)

delayed bone ossification ( J:15507 )

• delayed ossification of extremities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
synpolydactyly		DOID:0060242	OMIM:186000 OMIM:608180 OMIM:610234	J:15507

Allelic Composition	Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

limbs/digits/tail

abnormal carpal bone morphology ( J:47366 )

• d5 and d5* split from d4 unlike in wild-type mice

abnormal digit morphology ( J:36214 , J:47366 )

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbsthe second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs (J:36214)

• some mice have an extra posterior digit rudiment and some mice have altered digit segmentation (J:36214)

• digits are less severely affected than in Hoxd11^tm2Ddu Hoxd13^tm2Ddu homozygotes (J:47366)

abnormal phalanx morphology ( J:36214 )

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

• the metacarpal-phalangeal bones are fused

ectrodactyly ( J:71694 )

• a slight reduction in the length of digits II and V due to the absence of their second phalanges

abnormal metacarpal bone morphology ( J:36214 )

• the metacarpal-phalangeal bones are fused

• metacarpals are truncated

abnormal metatarsal bone morphology ( J:47366 )

• metatarsals V and I are broader than normal

digestive/alimentary system

abnormal anus morphology ( J:36770 )

• abnormally opened and relaxed anus, with a funnel-like shape

abnormal internal anal sphincter morphology ( J:36770 )

• absent internal anal sphincter

rectal prolapse ( J:36770 )

• more than 30% of males after 18 months of age develop anal prolapse, which is not observed in females

muscle

abnormal smooth muscle morphology ( J:36770 )

• marked disorganization of rectal muscle layers in the region of the internal anal sphincter, with an abnormally thin and, sometimes, absent longitudinal muscle layer

abnormal internal anal sphincter morphology ( J:36770 )

• absent internal anal sphincter

skeleton

abnormal carpal bone morphology ( J:47366 )

• d5 and d5* split from d4 unlike in wild-type mice

abnormal phalanx morphology ( J:36214 )

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

• the metacarpal-phalangeal bones are fused

abnormal metacarpal bone morphology ( J:36214 )

• the metacarpal-phalangeal bones are fused

• metacarpals are truncated

abnormal metatarsal bone morphology ( J:47366 )

• metatarsals V and I are broader than normal

Allelic Composition	Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

limbs/digits/tail

abnormal digit morphology ( J:37211 )

• digit I in the hindlimb consists of a single metacarpo-phalangeal element

• phalange 2 of digit II is fused to phalange 1 in the hindlimb

abnormal phalanx morphology ( J:37211 )

• phalange 2 of digit II is fused to phalange 1 in the hindlimb

polydactyly ( J:37211 )

• an extra digit VI forms

abnormal metacarpal bone morphology ( J:37211 )

• an extra d5 element (d5*) either contacts the basis of an extra digit VI

skeleton

abnormal phalanx morphology ( J:37211 )

• phalange 2 of digit II is fused to phalange 1 in the hindlimb

abnormal metacarpal bone morphology ( J:37211 )

• an extra d5 element (d5*) either contacts the basis of an extra digit VI

Allelic Composition	Hoxd13^tm1Ddu/Hoxd13⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

digestive/alimentary system

abnormal internal anal sphincter morphology ( J:36770 )

• disorganization of the internal anal sphincter

muscle

abnormal internal anal sphincter morphology ( J:36770 )

• disorganization of the internal anal sphincter

Allelic Composition	Hoxd13^spdh/Hoxd13^tm1Ddu
Genetic Background	involves: 129S2/SvPas * C3HeB/FeJLe * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd13^spdh mutation (1 available); any Hoxd13 mutation (24 available)
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

limbs/digits/tail

abnormal phalanx morphology ( J:71694 )

• thickening of digits and longitudinal fusion of phalanges in digits III and IV

ectrodactyly ( J:71694 )

• full disappearance of the second phalanges in digits II and V

abnormal digit development ( J:71694 )

reproductive system

reduced male fertility ( J:71694 )

• although males homozygous for either mutation are sterile, the majority of these trans-heterozygotes are fertile

skeleton

abnormal phalanx morphology ( J:71694 )

• thickening of digits and longitudinal fusion of phalanges in digits III and IV

delayed endochondral bone ossification ( J:71694 )

• at 8 days of age the paws have some delay in the ossification process although ossification centers are observed

Allelic Composition	Hoxd12^tm2Ddu/Hoxd12⁺ Hoxd13^tm1Ddu/Hoxd13⁺
Genetic Background	either: (involves: 129S2/SvPas * 129/Sv) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxd12^tm2Ddu mutation (1 available); any Hoxd12 mutation (13 available)
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

limbs/digits/tail

abnormal digit morphology ( J:36770 )

• postminimus in 80% of trans-heterozygous mice

brachyphalangia ( J:36770 )

• reduction in digit size of trans-heterozygous mice is most prominent in the second phalanges

brachydactyly ( J:36770 )

• trans-heterozygous mice exhibit a reduction of digits V and II in the forelimbs

skeleton

brachyphalangia ( J:36770 )

• reduction in digit size of trans-heterozygous mice is most prominent in the second phalanges

Allelic Composition	Hoxa13^tm1Ipc/Hoxa13^tm1Ipc Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa13^tm1Ipc mutation (0 available); any Hoxa13 mutation (29 available)
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:36214 )

• pups die between E11.5 and E15.5 similar to in Hoxa13^tm1Ipc homozygotes

limbs/digits/tail

abnormal autopod morphology ( J:36214 )

• at E12.5 to E14.5, autopods are round with no external sign of digit formation and are more truncated than in any Hoxa13^tm1Ipc and/or Hoxd13^tm1Ddu mice

• at E14.5, chondrogenic activity is diffuse throughout the hindlimb autopods and in two ill-defined areas in the forelimb autopods

• in one mouse that survived to E16.5, in the hindlimb there is a cartilage connection between the autopod and fibula

decreased autopod size ( J:36214 )

short radius ( J:36214 )

• in three mouse that survived to E16.5

short ulna ( J:36214 )

• in three mouse that survived to E16.5

abnormal fibula morphology ( J:36214 )

• in three mouse that survived to E16.5, in the hindlimb there is a cartilage connection between the autopod and fibula

short limbs ( J:36214 )

growth/size/body

decreased embryo size ( J:36214 )

skeleton

short radius ( J:36214 )

• in three mouse that survived to E16.5

short ulna ( J:36214 )

• in three mouse that survived to E16.5

abnormal fibula morphology ( J:36214 )

• in three mouse that survived to E16.5, in the hindlimb there is a cartilage connection between the autopod and fibula

embryo

decreased embryo size ( J:36214 )

Allelic Composition	Hoxa13^tm2Ipc/Hoxa13^tm2Ipc Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa13^tm2Ipc mutation (0 available); any Hoxa13 mutation (29 available)
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:36214 )

• pups die between E11.5 and E15.5 similar to in Hoxa13^tm2Ipc homozygotes

limbs/digits/tail

abnormal autopod morphology ( J:36214 )

• at E12.5 to E14.5, autopods are round with no external sign of digit formation and are more truncated than in any Hoxa13^tm2Ipc and/or Hoxd13^tm1Ddu mice

• at E14.5, chondrogenic activity is diffuse throughout the hindlimb autopods and in two ill-defined areas in the forelimb autopods

• in one mouse that survived to E16.5, in the hindlimb there is a cartilage connection between the autopod and fibula

short radius ( J:36214 )

• in three mouse that survived to E16.5

short ulna ( J:36214 )

• in three mouse that survived to E16.5

abnormal fibula morphology ( J:36214 )

• in three mouse that survived to E16.5, in the hindlimb there is a cartilage connection between the autopod and fibula

short limbs ( J:36214 )

growth/size/body

decreased embryo size ( J:36214 )

skeleton

short radius ( J:36214 )

• in three mouse that survived to E16.5

short ulna ( J:36214 )

• in three mouse that survived to E16.5

abnormal fibula morphology ( J:36214 )

• in three mouse that survived to E16.5, in the hindlimb there is a cartilage connection between the autopod and fibula

embryo

decreased embryo size ( J:36214 )

Allelic Composition	Hoxa13^tm2Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

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

limbs/digits/tail

abnormal autopod morphology ( J:36214 )

• digits of the forelimb autopods consists of short metacarpal/phalangeal bones fused together and terminal phalangeal-like structures are fused to form a common terminal arch

decreased autopod size ( J:36214 )

• the forelimb autopod is drastically truncated

abnormal carpal bone morphology ( J:36214 )

• at one week of age, the cartilage has abnormally large central blastema and extra distal cartilage related to the presence of extra digits

fused carpal bones ( J:36214 )

• the distal carpals are fused

abnormal digit morphology ( J:36214 )

• terminal phalanges are partly fused in digits II through V in the hindlimbs

• at E18.5, forelimbs show selective truncation and delay in the ossification of digits II and V and a rudimentary posterior extra digit cartilage

abnormal phalanx morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• terminal phalanges are partly fused in digits II through V in the hindlimbs of some mice

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

brachydactyly ( J:36214 )

• digits of the forelimb autopods consists of short metacarpal/phalangeal bones fused together and terminal phalangeal-like structures are fused to form a common terminal arch

monodactyly ( J:36214 )

• no individual digits are observed and the extremities of the forepaws are a continuous ridge

fused tarsal bones ( J:36214 )

• the distal tarsals are fused

abnormal metacarpal bone morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

abnormal digit development ( J:36214 )

• at E13.5, an extra digit condensation is observed

• at E13.5, a central condensation is fused distally to one of its neighbors

• an abnormal condensation occurs between digit IV and V condensations

• at E14.5, a seventh posterior digit condensation is observed and a third digit condensation is prematurely truncated or joined distally to the second cartilage

• at E18.5, none of the digits become properly separated half of the mice have central digits fused with one or both of its neighbors

• the size of the digit cartilages decreases towards the anterior and posterior margins and the entire forefoot has a symmetrical round shape

• at E18.5, hindlimb digit cartilages are severely truncated and almost not segmented with terminal fusions

• at E18.5, forelimbs have seven non-ossified digits

skeleton

abnormal carpal bone morphology ( J:36214 )

• at one week of age, the cartilage has abnormally large central blastema and extra distal cartilage related to the presence of extra digits

fused carpal bones ( J:36214 )

• the distal carpals are fused

abnormal phalanx morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• terminal phalanges are partly fused in digits II through V in the hindlimbs of some mice

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

fused tarsal bones ( J:36214 )

• the distal tarsals are fused

abnormal metacarpal bone morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

Allelic Composition	Hoxa13^tm1Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13⁺
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

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

limbs/digits/tail

abnormal carpal bone morphology ( J:36214 )

• in 50% of mice, the fourth posterior distal carpal bone is partly or fully split into two distinct bone

abnormal digit morphology ( J:36214 )

• digits I and V are deformed in the hinblimb

• digit I is more truncated than normal and no first phalanx is visible

• newborn mice show an incomplete segmentation between phalangeal cartilage in digit I

• digit I in the hindlimb has its first phalanx truncated and the terminal phalanx has an altered bell-shaped morphology

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

• digits II and III are fused and alterations in the claw of digit I are observeddigits II and III are fused and alterations in the claw of digit I are observed

abnormal phalanx morphology ( J:36214 )

• digit I lacks a first phalanx and newborn mice show an incomplete segmentation between the two phalangeal cartilages in forelimbs and in some hindlimbs

• digit I in the hindlimb has its first phalanx truncated and the terminal phalanx has an altered bell-shaped morphology

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

brachydactyly ( J:36214 )

• in adults, digits I, II and V are truncated

polydactyly ( J:36214 )

• 23 of 40 mice have an extra posterior digit in the forelimbs consisting of either a small floating bone distal to the post minimus or an entire small digit

interdigital webbing ( J:36214 )

• in adults, digits III and IV are partially fused in the forelimbs and digits II, III and IV are completely fused in the hindlimbs

elongated metatarsal bones ( J:36214 )

• the metatarsal of digit I is elongated

skeleton

abnormal carpal bone morphology ( J:36214 )

• in 50% of mice, the fourth posterior distal carpal bone is partly or fully split into two distinct bone

abnormal phalanx morphology ( J:36214 )

• digit I lacks a first phalanx and newborn mice show an incomplete segmentation between the two phalangeal cartilages in forelimbs and in some hindlimbs

• digit I in the hindlimb has its first phalanx truncated and the terminal phalanx has an altered bell-shaped morphology

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

elongated metatarsal bones ( J:36214 )

• the metatarsal of digit I is elongated

Allelic Composition	Hoxa13^tm2Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13⁺
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

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

limbs/digits/tail

abnormal carpal bone morphology ( J:36214 )

• in 50% of mice, the fourth posterior distal carpal bone is partly or fully split into two distinct bone

abnormal digit morphology ( J:36214 )

• digits I and V are deformed in the hinblimb

• digit I is more truncated than normal and no first phalanx is visible

• digit I in the hindlimb has its first phalanx truncated and the terminal phalanx has an altered bell-shaped morphology

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

• digits II and III are fused and alterations in the claw of digit I are observeddigits II and III are fused and alterations in the claw of digit I are observed

• newborn mice show an incomplete segmentation between phalangeal cartilage in digit I

abnormal phalanx morphology ( J:36214 )

• digit I lacks a first phalanx and newborn mice show an incomplete segmentation between the two phalangeal cartilages in forelimbs and in some hindlimbs

• digit I in the hindlimb has its first phalanx truncated and the terminal phalanx has an altered bell-shaped morphology

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

brachydactyly ( J:36214 )

• in adults, digits I, II and V are truncated

polydactyly ( J:36214 )

• 23 of 40 mice have an extra posterior digit in the forelimbs consisting of either a small floating bone distal to the post minimus or an entire small digit

interdigital webbing ( J:36214 )

• in adults, digits III and IV are partially fused in the forelimbs and digits II, III and IV are completely fused in the hindlimbs

elongated metatarsal bones ( J:36214 )

• the metatarsal of digit I is elongated

skeleton

abnormal carpal bone morphology ( J:36214 )

• in 50% of mice, the fourth posterior distal carpal bone is partly or fully split into two distinct bone

abnormal phalanx morphology ( J:36214 )

• digit I lacks a first phalanx and newborn mice show an incomplete segmentation between the two phalangeal cartilages in forelimbs and in some hindlimbs

• digit I in the hindlimb has its first phalanx truncated and the terminal phalanx has an altered bell-shaped morphology

• the second phalanges of digits II and mostly in digit V are truncated in the forelimbs and hindlimbs

elongated metatarsal bones ( J:36214 )

• the metatarsal of digit I is elongated

Allelic Composition	Hoxa13^tm1Ipc/Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

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

limbs/digits/tail

abnormal autopod morphology ( J:36214 )

• digits of the forelimb autopods consists of short metacarpal/phalangeal bones fused together and terminal phalangeal-like structures are fused to form a common terminal arch

decreased autopod size ( J:36214 )

• the forelimb autopod is drastically truncated

abnormal carpal bone morphology ( J:36214 )

• at one week of age, the cartilage has abnormally large central blastema and extra distal cartilage related to the presence of extra digits

fused carpal bones ( J:36214 )

• the distal carpals are fused

abnormal digit morphology ( J:36214 )

• terminal phalanges are partly fused in digits II through V in the hindlimbs

• at E18.5, forelimbs show selective truncation and delay in the ossification of digits II and V and a rudimentary posterior extra digit cartilage

abnormal phalanx morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• terminal phalanges are partly fused in digits II through V in the hindlimbs of some mice

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

brachydactyly ( J:36214 )

• digits of the forelimb autopods consists of short metacarpal/phalangeal bones fused together and terminal phalangeal-like structures are fused to form a common terminal arch

monodactyly ( J:36214 )

• no individual digits are observed and the extremities of the forepaws are a continuous ridge

fused tarsal bones ( J:36214 )

• the distal tarsals are fused

abnormal metacarpal bone morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

abnormal digit development ( J:36214 )

• at E13.5, an extra digit condensation is observed

• at E13.5, a central condensation is fused distally to one of its neighbors

• an abnormal condensation occurs between digit IV and V condensations

• at E14.5, a seventh posterior digit condensation is observed and a third digit condensation is prematurely truncated or joined distally to the second cartilage

• at E18.5, none of the digits become properly separated half of the mice have central digits fused with one or both of its neighbors

• the size of the digit cartilages decreases towards the anterior and posterior margins and the entire forefoot has a symmetrical round shape

• at E18.5, hindlimb digit cartilages are severely truncated and almost not segmented with terminal fusions

• at E18.5, forelimbs have seven non-ossified digits

skeleton

abnormal carpal bone morphology ( J:36214 )

• at one week of age, the cartilage has abnormally large central blastema and extra distal cartilage related to the presence of extra digits

fused carpal bones ( J:36214 )

• the distal carpals are fused

abnormal phalanx morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• terminal phalanges are partly fused in digits II through V in the hindlimbs of some mice

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

fused tarsal bones ( J:36214 )

• the distal tarsals are fused

abnormal metacarpal bone morphology ( J:36214 )

• no individual metatarsal and phalangeal bones are observed in the hindlimbs

• at E18.5, forelimbs lack segmentation between certain metacarpals and first phalangeal cartilage

Allelic Composition	Hoxa13^tm1Ipc/Hoxa13^tm1Ipc Hoxd13^tm1Ddu/Hoxd13⁺
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:36214 )

• mice are not recovered after E14.5

limbs/digits/tail

abnormal carpal bone morphology ( J:36214 )

• with the exception of an altered pisiform cartilage, there is no individualization of carpal condensation

abnormal digit morphology ( J:36214 )

• digits lack separation and segmentation and tend to fuse terminally

• mice lack digit I and some mice have a minute posterior extra digit cartilage

abnormal tarsal bone morphology ( J:36214 )

• the tarsus is altered more than in Hoxa13^tm1Ipc/ Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu mice

• none of the tarsus blastemas are properly individualized and there is no separation between proximal and distal rows

abnormal digit development ( J:36214 )

• in the hindlimbs condensations for digits I through V are apparent but are irregular and remain in a primitive state

• in the hindlimbs, there is no chondrification in digit rays II and V

abnormal embryonic autopod plate morphology ( J:36214 )

• foot plates are narrower, especially towards the distal extremities, when compared with Hoxa13^tm1Ipc/ Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu mice

skeleton

abnormal carpal bone morphology ( J:36214 )

• with the exception of an altered pisiform cartilage, there is no individualization of carpal condensation

abnormal tarsal bone morphology ( J:36214 )

• the tarsus is altered more than in Hoxa13^tm1Ipc/ Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu mice

• none of the tarsus blastemas are properly individualized and there is no separation between proximal and distal rows

Allelic Composition	Hoxa13^tm2Ipc/Hoxa13^tm2Ipc Hoxd13^tm1Ddu/Hoxd13⁺
Genetic Background	either: (involves: 129/Sv * 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:36214 )

• mice are not recovered after E14.5

limbs/digits/tail

abnormal carpal bone morphology ( J:36214 )

• with the exception of an altered pisiform cartilage, there is no individualization of carpal condensation

abnormal digit morphology ( J:36214 )

• digits lack separation and segmentation and tend to fuse terminally

• mice lack digit I and some mice have a minute posterior extra digit cartilage

abnormal tarsal bone morphology ( J:36214 )

• the tarsus is altered more than in Hoxa13^tm2Ipc/ Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu mice

• none of the tarsus blastemas are properly individualized and there is no separation between proximal and distal rows

abnormal digit development ( J:36214 )

• in the hindlimbs condensations for digits I through V are apparent but are irregular and remain in a primitive state

• in the hindlimbs, there is no chondrification in digit rays II and V

abnormal embryonic autopod plate morphology ( J:36214 )

• foot plates are narrower, especially towards the distal extremities, when compared with Hoxa13^tm2Ipc/ Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu mice

skeleton

abnormal carpal bone morphology ( J:36214 )

• with the exception of an altered pisiform cartilage, there is no individualization of carpal condensation

abnormal tarsal bone morphology ( J:36214 )

• the tarsus is altered more than in Hoxa13^tm2Ipc/ Hoxa13⁺ Hoxd13^tm1Ddu/Hoxd13^tm1Ddu mice

• none of the tarsus blastemas are properly individualized and there is no separation between proximal and distal rows

Allelic Composition	Evx2^tm2Ddu/Evx2^tm2Ddu Hoxd13^tm1Ddu/Hoxd13^tm1Ddu
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Evx2^tm2Ddu mutation (0 available); any Evx2 mutation (19 available)
Hoxd13^tm1Ddu mutation (0 available); any Hoxd13 mutation (24 available)

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

mortality/aging

postnatal lethality ( J:37211 )

• 50% of mice die postnatally

limbs/digits/tail

abnormal carpal bone morphology ( J:37211 )

• wrist deformations are more severe than in Evx2^tm1Ddu homozygotes

• the central bone is flattened and d3 is abnormal

• d4 forms a small bone

• an extra d5 element (d5*) either contacts the basis of an extra digit VI or fuses to d5

• several small ectopic bones appear between the metacarpals that eventually fuse together with underlying carpal bones or with the metacarpus

abnormal digit morphology ( J:37211 )

• phalange 2 is missing from digits II and V

• the thumb is abnormal and appears as a single block with a hole at the level of the fusion between phalange 1 and the metacarpal

• an extra d5 element (d5*) either contacts the basis of an extra digit VI or fuses to d5

• digit I in the hindlimb consists of a single metacarpo-phalangeal element

• digits II and V of the hindlimb are abnormal

• an extra digit is found in the hindlimb

abnormal phalanx morphology ( J:37211 )

• phalanges are reduced and deformed

• phalange 2 is missing from digits II and V

• fusion occurs at most articulations resulting in a single metacarpo-phalangeal element

• phalange 1 fuses to the metacarpal

brachyphalangia ( J:37211 )

• all digits are markedly shorter

polydactyly ( J:37211 )

• a seventh digit forms from the post-axial rudimentary bones

• an extra digit is found in the hindlimb

abnormal tarsal bone morphology ( J:37211 )

• a supernumerary tarsal bone is found in the hindlimb

abnormal metacarpal bone morphology ( J:37211 )

• metacarpals are reduced and deformed

• fusion occurs at most articulations resulting in a single metacarpo-phalangeal element

• phalange 1 fuses to the metacarpal

• several small ectopic bones appear between the metacarpals that eventually fuse together with underlying carpal bones or with the metacarpus

growth/size/body

decreased body weight ( J:37211 )

• mice weigh up to 50% less than wild-type mice at birth

skeleton

abnormal carpal bone morphology ( J:37211 )

• wrist deformations are more severe than in Evx2^tm1Ddu homozygotes

• the central bone is flattened and d3 is abnormal

• d4 forms a small bone

• an extra d5 element (d5*) either contacts the basis of an extra digit VI or fuses to d5

• several small ectopic bones appear between the metacarpals that eventually fuse together with underlying carpal bones or with the metacarpus

abnormal phalanx morphology ( J:37211 )

• phalanges are reduced and deformed

• phalange 2 is missing from digits II and V

• fusion occurs at most articulations resulting in a single metacarpo-phalangeal element

• phalange 1 fuses to the metacarpal

brachyphalangia ( J:37211 )

• all digits are markedly shorter

abnormal tarsal bone morphology ( J:37211 )

• a supernumerary tarsal bone is found in the hindlimb

abnormal metacarpal bone morphology ( J:37211 )

• metacarpals are reduced and deformed

• fusion occurs at most articulations resulting in a single metacarpo-phalangeal element

• phalange 1 fuses to the metacarpal

• several small ectopic bones appear between the metacarpals that eventually fuse together with underlying carpal bones or with the metacarpus

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