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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bmp5se
short ear
MGI:1856150
Summary 23 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bmp5se/Bmp5se Ab/Gn MGI:3587796
hm2
Bmp5se/Bmp5se C/Gn MGI:3587794
hm3
Bmp5se/Bmp5se involves: C3H * P MGI:3587814
hm4
Bmp5se/Bmp5se NB MGI:3587807
hm5
Bmp5se/Bmp5se Not Specified MGI:3587431
hm6
Bmp5se/Bmp5se P/J MGI:3587806
hm7
Bmp5se/Bmp5se SEAC/Gn MGI:3587904
hm8
Bmp5se/Bmp5se SEA/Gn MGI:3587901
hm9
Bmp5se/Bmp5se SEC/1Gn MGI:3587818
hm10
Bmp5se/Bmp5se SEC/Gn MGI:3587817
ht11
Bmp5se/Bmp5+ SEAC/Gn MGI:3587912
ht12
Bmp5se/Bmp5T27H involves: 101/H * C3H/HeH MGI:4822385
ht13
Bmp5se/Bmp5se-5RD300H involves: 101/Rl * C3H/Rl MGI:4822377
ht14
Bmp5se/Bmp5se-15THO-I involves: 101/Rl * C3H/Rl MGI:4436878
ht15
Bmp5se/Bmp5se-52CoS involves: 101/Rl * C3H/Rl MGI:4822391
ht16
Bmp5se/Bmp5se-x involves: 101/Rl * C3H/Rl MGI:4822397
ht17
Bmp5se/Bmp5se-32DTD involves: 101/Rl * C3H/Rl MGI:4822409
ht18
Bmp5se/Bmp5se-1FrThc involves: 101/Rl * C3H/Rl MGI:4822420
ht19
Bmp5se/Bmp5se-19H involves: C3H/HeH MGI:5299239
ht20
Bmp5se/Bmp5se-20H involves: C3H/HeH MGI:5299241
cx21
In(9Bmp5-Myo6)5Rl/Bmp5se Myo6sv involves: 101/Rl * C3H/Rl MGI:4436868
cx22
Bmp5se/Bmp5se
Bmp6tm1Rob/Bmp6tm1Rob
involves: 129S/SvEv MGI:3811522
cx23
Bmp5se Myo6sv/Bmp5se Myo6sv involves: B10.HA/(33NX)Sn * C57BL/6J MGI:5433383


Genotype
MGI:3587796
hm1
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
Ab/Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear

growth/size/body
• shorter total length, body length, tail length and psv length

skeleton
• the lesser cornua of the hyoid bone is reduced
• Background Sensitivity: ulnar sesamoid bone is nearly always absent on the Ab background and is reduced in size on the C background
• ulna is shorter in males
• medial sesamoid bone of the distal end of the femur is reduced in size
• peroneal process of fibula is reduced in size or is absent
• curvature of tibia is much less pronounced than in controls
• larygeal cartilage have a less dense appearance
• size is reduced
• size is reduced
• thinner long bones except for ulna in females
• humerus width is reduced in both sexes
• longer long bones except for ulna in males
• the length is longer in females but not males
• Background Sensitivity: about 12% have the 4th and 5th sternebrae fused to give only 4 sternebrae anterior to the xiphisternum
• the omosternum is either absent or very small
• the 13th pair of ribs is incompletely developed
• 35% of homozygotes have no 13th rib
• Background Sensitivity: number of sacral and caudal vertebrae is reduced at 30 days of age but not at 3 months of age on the Ab background and no differences are observed on the C background
• size of the dorsal spine of the 2nd thoracic vertebra is variable
• Background Sensitivity: inferior lamella of the 6th cervical vertebra is usually absent on the Ab background and sometimes absent on the C background
• size of the dorsal spine of the 2nd thoracic vertebra is variable

limbs/digits/tail
• humerus width is reduced in both sexes
• the length is longer in females but not males
• Background Sensitivity: ulnar sesamoid bone is nearly always absent on the Ab background and is reduced in size on the C background
• ulna is shorter in males
• medial sesamoid bone of the distal end of the femur is reduced in size
• peroneal process of fibula is reduced in size or is absent
• curvature of tibia is much less pronounced than in controls

liver/biliary system

renal/urinary system
• kidneys often have two or more papillae
• varying degrees of hydronephrosis

respiratory system
• certain fenestrae of the larynx are larger
• larygeal cartilage have a less dense appearance
• size is reduced
• size is reduced

craniofacial
• the lesser cornua of the hyoid bone is reduced




Genotype
MGI:3587794
hm2
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
C/Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the lesser cornua of the hyoid bone is reduced
• larygeal cartilage have a less dense appearance
• size is reduced
• size is reduced
• Background Sensitivity: ulnar sesamoid bone is reduced in size on the C background and nearly always absent on the Ab background
• medial sesamoid bone of the distal end of the femur is reduced in size
• peroneal process of fibula is reduced in size or is absent
• Background Sensitivity: the extra 6th sternebrae anterior to the xiphisternum that is sometimes seen in controls, is never observed and the 4th and 5th sternebrae are sometimes fused
• Background Sensitivity: inferior lamella of the 6th cervical vertebra is sometimes absent on the C background and usually absent on the Ab background

limbs/digits/tail
• Background Sensitivity: ulnar sesamoid bone is reduced in size on the C background and nearly always absent on the Ab background
• medial sesamoid bone of the distal end of the femur is reduced in size
• peroneal process of fibula is reduced in size or is absent

respiratory system
• certain fenestrae of the larynx are larger
• larygeal cartilage have a less dense appearance
• size is reduced
• size is reduced

craniofacial
• the lesser cornua of the hyoid bone is reduced




Genotype
MGI:3587814
hm3
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
involves: C3H * P
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• scapha, the annular cartilages of the meatus, the crus helicis and most of the basal part of the cartilage are all reduced
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• ears are shrunken and ruffled due to cartilage defects

growth/size/body
• scapha, the annular cartilages of the meatus, the crus helicis and most of the basal part of the cartilage are all reduced
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• ears are shrunken and ruffled due to cartilage defects

skeleton
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• the basal part of the ear cartilage does not develop as well as in controls and is smaller and thinner by time of birth
• condenstation of mesenchyme leading to cartilage formation is defective in the xiphoid region of the sternal bands, in the annular cartilages of the meatus, and in the scapha

craniofacial
• scapha, the annular cartilages of the meatus, the crus helicis and most of the basal part of the cartilage are all reduced
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• ears are shrunken and ruffled due to cartilage defects




Genotype
MGI:3587807
hm4
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
NB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• Background Sensitivity: ears are small but slightly larger than on the P background

skeleton
• Background Sensitivity: ears are small but slightly larger than on the P background

craniofacial
• Background Sensitivity: ears are small but slightly larger than on the P background

growth/size/body
• Background Sensitivity: ears are small but slightly larger than on the P background




Genotype
MGI:3587431
hm5
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin
• pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type
• pinna is usually thick and fleshy

homeostasis/metabolism
• decreased repair of fractures

craniofacial
• pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin
• pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type
• pinna is usually thick and fleshy

limbs/digits/tail
• aplasia or hypoplasia of ulnar sesamoid bone in wrist
• aplasia or hypoplasia of the peroneal process of the fibula
• reduction or elimination of medial, but not lateral, sesamoid bone near knee

growth/size/body
• pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin
• pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type
• pinna is usually thick and fleshy

skeleton
• decreased repair of fractures
• aplasia or hypoplasia of ulnar sesamoid bone in wrist
• reduction or elimination of medial, but not lateral, sesamoid bone near knee
• altered curves of long bones
• aplasia or hypoplasia of the peroneal process of the fibula
• smaller widths of long bones
• xiphisternum is either absent or split
• xiphisternum is either absent or split
• rib defects
• sacrum defect
• vertebrae abnormalities

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Meier-Gorlin syndrome DOID:0060306 OMIM:PS224690
J:24474




Genotype
MGI:3587806
hm6
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
P/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• scapha, the rings that surround the external auditory meatus, the crus helicis and most of the basal part of the cartilage are all reduced
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• Background Sensitivity: ears are smaller than in the NB background
• ear is shrunken and ruffled due to cartilage defects

skeleton
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• Background Sensitivity: xiphisternum is either very reduced or completely absent in the P/J background and is bifurcated in the NB background
• the basal part of the ear cartilage does not develop as well as in controls and is smaller and thinner by time of birth
• condenstation of mesenchyme leading to cartilage formation is defective in the xiphoid region of the sternal bands, in the annular cartilages of the meatus, and in the scapha

craniofacial
• scapha, the rings that surround the external auditory meatus, the crus helicis and most of the basal part of the cartilage are all reduced
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• Background Sensitivity: ears are smaller than in the NB background
• ear is shrunken and ruffled due to cartilage defects

growth/size/body
• scapha, the rings that surround the external auditory meatus, the crus helicis and most of the basal part of the cartilage are all reduced
• cartilage is entirely absent in the scapha and reduced in size in all other parts of the ear
• Background Sensitivity: ears are smaller than in the NB background
• ear is shrunken and ruffled due to cartilage defects




Genotype
MGI:3587904
hm7
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
SEAC/Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the lateral branches of the aorta have a lower frequency of dorsal rami
• the right renal artery lies ventral to the posterior vena cava rather than dorsal to it as in controls

embryo
• crowding of the abdominal viscera in embryos
• both urogenital folds are abnormally shaped, being shorter and turned in more toward the midline than normal in embryos
• small umbilical hernia of the liver

endocrine/exocrine glands
• the left ovary frequently is displaced and lies at the anterior medial border of the kidney with the mesovarium and mesometrium attached near the medial border of the kidney
• the left testis occasionally is undescended and remains in the abdominal cavity

immune system
• granulomas are seen on the ventral surface of the central and left lateral lobes of the liver

limbs/digits/tail
• many E15-E17 embryos have a small papilla on the ulnar side of the fifth digit of the forefoot

liver/biliary system
• increase in liver lesions, mainly due to an increase in granulomas
• small umbilical hernia of the liver

renal/urinary system
• the right renal artery lies ventral to the posterior vena cava rather than dorsal to it as in controls
• occasionally observe hydronephrosis
• occasionally observe hydroureter

reproductive system
• the left ovary frequently is displaced and lies at the anterior medial border of the kidney with the mesovarium and mesometrium attached near the medial border of the kidney
• the left testis occasionally is undescended and remains in the abdominal cavity

respiratory system
• have numerous small cysts in the lungs

skeleton

growth/size/body
• have numerous small cysts in the lungs




Genotype
MGI:3587901
hm8
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
SEA/Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the right renal artery lies ventral to the posterior vena cava rather than dorsal to it as in controls

renal/urinary system
• the right renal artery lies ventral to the posterior vena cava rather than dorsal to it as in controls
• observed occasionally
• observed occasionally




Genotype
MGI:3587818
hm9
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
SEC/1Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• cartilage forms more slowly in healing rib fractures

cardiovascular system
• the right renal artery lies ventral to the posterior vena cava rather than dorsal to it as in controls

immune system
• granulomas are seen on the ventral surface of the central and left lateral lobes of the liver

liver/biliary system
• increase in liver lesions, mainly due to an increase in granulomas

respiratory system
• have numerous small cysts in the lungs

growth/size/body
• have numerous small cysts in the lungs




Genotype
MGI:3587817
hm10
Allelic
Composition
Bmp5se/Bmp5se
Genetic
Background
SEC/Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• cartilage forms more slowly in healing rib fractures
• reduced rate of proliferation of osteogenic cells of the periosteum in healing rib fractures




Genotype
MGI:3587912
ht11
Allelic
Composition
Bmp5se/Bmp5+
Genetic
Background
SEAC/Gn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• shorter than in controls but longer than in homozygotes
• shorter than in controls but longer than in homozygotes

skeleton
• shorter than in controls but longer than in homozygotes
• shorter than in controls but longer than in homozygotes




Genotype
MGI:4822385
ht12
Allelic
Composition
Bmp5se/Bmp5T27H
Genetic
Background
involves: 101/H * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5T27H mutation (0 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• short ears, similar to Bmp5se homozygous mice

hearing/vestibular/ear
• short ears, similar to Bmp5se homozygous mice

growth/size/body
• short ears, similar to Bmp5se homozygous mice




Genotype
MGI:4822377
ht13
Allelic
Composition
Bmp5se/Bmp5se-5RD300H
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-5RD300H mutation (1 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial

hearing/vestibular/ear

growth/size/body




Genotype
MGI:4436878
ht14
Allelic
Composition
Bmp5se/Bmp5se-15THO-I
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-15THO-I mutation (1 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• described as short

hearing/vestibular/ear
• described as short

growth/size/body
• described as short




Genotype
MGI:4822391
ht15
Allelic
Composition
Bmp5se/Bmp5se-52CoS
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-52CoS mutation (1 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• resembles Bmp5se homozygous mice

hearing/vestibular/ear
• resembles Bmp5se homozygous mice

growth/size/body
• resembles Bmp5se homozygous mice




Genotype
MGI:4822397
ht16
Allelic
Composition
Bmp5se/Bmp5se-x
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-x mutation (0 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• heterozygous Bmp5se/Bmp5se-x mice have short ears like Bmp5se homozygotes or possibly a little longer

hearing/vestibular/ear
• heterozygous Bmp5se/Bmp5se-x mice have short ears like Bmp5se homozygotes or possibly a little longer

growth/size/body
• heterozygous Bmp5se/Bmp5se-x mice have short ears like Bmp5se homozygotes or possibly a little longer




Genotype
MGI:4822409
ht17
Allelic
Composition
Bmp5se/Bmp5se-32DTD
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-32DTD mutation (1 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• resembles Bmp5se homozygous mice

hearing/vestibular/ear
• resembles Bmp5se homozygous mice

growth/size/body
• resembles Bmp5se homozygous mice




Genotype
MGI:4822420
ht18
Allelic
Composition
Bmp5se/Bmp5se-1FrThc
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-1FrThc mutation (0 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• viable and resemble Bmp5se homozygous mice

hearing/vestibular/ear
• viable and resemble Bmp5se homozygous mice

growth/size/body
• viable and resemble Bmp5se homozygous mice




Genotype
MGI:5299239
ht19
Allelic
Composition
Bmp5se/Bmp5se-19H
Genetic
Background
involves: C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-19H mutation (0 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice are viable and resemble Bmpse homozygotes

craniofacial
• short ears

hearing/vestibular/ear
• short ears

growth/size/body
• short ears




Genotype
MGI:5299241
ht20
Allelic
Composition
Bmp5se/Bmp5se-20H
Genetic
Background
involves: C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp5se-20H mutation (0 available); any Bmp5 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• likely prenatally




Genotype
MGI:4436868
cx21
Allelic
Composition
In(9Bmp5-Myo6)5Rl/Bmp5se Myo6sv
Genetic
Background
involves: 101/Rl * C3H/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
In(9Bmp5-Myo6)5Rl mutation (0 available); any In(9Bmp5-Myo6)5Rl mutation (0 available)
Myo6sv mutation (1 available); any Myo6 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• waltzer-like; resembles Myo6sv

craniofacial
• described as short ears

hearing/vestibular/ear
• described as short ears

growth/size/body
• described as short ears




Genotype
MGI:3811522
cx22
Allelic
Composition
Bmp5se/Bmp5se
Bmp6tm1Rob/Bmp6tm1Rob
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Bmp6tm1Rob mutation (2 available); any Bmp6 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• slight growth reduction

skeleton
• delayed fusion of sternal bands
• reduced xiphoid process at E17.5

reproductive system
• males are sterile whereas females are fertile




Genotype
MGI:5433383
cx23
Allelic
Composition
Bmp5se Myo6sv/Bmp5se Myo6sv
Genetic
Background
involves: B10.HA/(33NX)Sn * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp5se mutation (72 available); any Bmp5 mutation (116 available)
Myo6sv mutation (1 available); any Myo6 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• The percentage of double homozygotes generated from crosses of double homozygotes with double heterozgyotes in coupling is significantly lower than Mendelian prediction indicating prenatal lethality in the compound homozygote more severe than in either single homozygote





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory