Phenotypes associated with this allele

• Allele Symbol: Etn2^Sd
• Allele Name: short Danforth
• Allele ID: MGI:1857746
• Summary: 22 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Etn2^Sd/Etn2^Sd	B6.Cg-Etn2^Sd	MGI:5508195
hm2	Etn2^Sd/Etn2^Sd	involves: Danforth's duplication stock	MGI:3714119
hm3	Etn2^Sd/Etn2^Sd	Not Specified	MGI:2169403
ht4	Etn2^Sd/Etn2^+	B6By.Cg-Etn2^Sd Mcoln3^Va-J Krt25^Re/J	MGI:3714040
ht5	Etn2^Sd/Etn2^+	B6.Cg-Etn2^Sd	MGI:5508196
ht6	Etn2^Sd/Etn2^+	involves: Danforth's duplication stock	MGI:3714118
ht7	Etn2^Sd/Etn2^+	involves: NMRI	MGI:3714072
ht8	Etn2^Sd/Etn2^+	Not Specified	MGI:2169402
cx9	Etl4^Gt(6LSN)6029Gos/Etl4^+ Etn2^Sd/Etn2^+	involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI	MGI:3714070
cx10	Etl4^Gt(6LSN)6029Gos/Etl4^Gt(6LSN)6029Gos Etn2^Sd/Etn2^+	involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI	MGI:3714071
cx11	Etn2^Sd/Etn2^Sd Ptf1a/Ptf1aos^tm3(CAG-Ptf1aos)Kymm/Ptf1a/Ptf1aos^tm3(CAG-Ptf1aos)Kymm	involves: C57BL/6	MGI:5508345
cx12	Etn2^Sd/Etn2^Sd Ptf1a/Ptf1aos^tm3(CAG-Ptf1aos)Kymm/Ptf1a/Ptf1aos^tm3(CAG-Ptf1aos)Kymm	involves: C57BL/6	MGI:5508344
cx13	Etn2^Sd/Etn2^+ Ptf1a/Ptf1aos^tm3(CAG-Ptf1aos)Kymm/Ptf1aos^+	involves: C57BL/6	MGI:5508343
cx14	Etn2^Sd/Etn2^+ Ptf1a/Ptf1aos^tm1Kymm/Ptf1a^+	involves: C57BL/6	MGI:5508335
cx15	Etn2^Sd/Etn2^+ Ptf1a/Ptf1aos^tm1Kymm/Ptf1aos^+	involves: C57BL/6	MGI:5508336
cx16	Etn2^Sd/Etn2^+ Ptf1a/Ptf1aos^tm2(Ptf1a)Kymm/Ptf1aos^+	involves: C57BL/6	MGI:5508338
cx17	Etn2^Sd/Etn2^Sd Ptf1a/Ptf1aos^tm2(Ptf1a)Kymm/Ptf1a/Ptf1aos^tm2(Ptf1a)Kymm	involves: C57BL/6	MGI:5508340
cx18	Etn2^Sd/Etn2^+ Ptf1a/Ptf1aos^tm3(CAG-Ptf1aos)Kymm/Ptf1a^+	involves: C57BL/6	MGI:5508342
cx19	Etn2^Sd/Etn2^Sd Ptf1a/Ptf1aos^tm2(Ptf1a)Kymm/Ptf1a/Ptf1aos^tm2(Ptf1a)Kymm	involves: C57BL/6	MGI:5508341
cx20	Etn2^Sd/Etn2^+ Ptf1a/Ptf1aos^tm2(Ptf1a)Kymm/Ptf1a^+	involves: C57BL/6	MGI:5508353
cx21	Etl4^Gt(pU8)80211Imeg/Etl4^Gt(pU8)80211Imeg Etn2^Sd/Etn2^+	involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va	MGI:3714045
cx22	Etl4^Gt(pU8)80211Imeg/Etl4^+ Etn2^Sd/Etn2^+	involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va	MGI:3714044

Genotype
MGI:5508195

hm1

• Allelic Composition: Etn2^Sd/Etn2^Sd
• Genetic Background: B6.Cg-Etn2^Sd

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

mortality/aging

neonatal lethality, complete penetrance ( J:195133 )

skeleton

abnormal nucleus pulposus morphology ( J:195133 )

intervertebral disk hypoplasia ( J:195133 )

axial skeleton hypoplasia ( J:195133 )

• more severe than in heterozygotes

respiratory system

primary atelectasis ( J:195133 )

abnormal breathing pattern ( J:195133 )

• no sign of breathing after birth

digestive/alimentary system

anal atresia ( J:195133 )

• blind-end-type anorectal malformation

growth/size/body

decreased body length ( J:195133 )

• more severe than in heterozygotes

limbs/digits/tail

short tail ( J:195133 )

• more severe than in heterozygotes

renal/urinary system

absent kidney ( J:195133 )

Genotype
MGI:3714119

hm2

• Allelic Composition: Etn2^Sd/Etn2^Sd
• Genetic Background: involves: Danforth's duplication stock

mortality/aging

neonatal lethality, complete penetrance ( J:13055 )

• tailless, abnormal-appearing pups all die within 18-24 hours of birth; normal numbers appear to survive entire developmental period

skeleton

absent vertebrae ( J:13055 )

• in most animals, all vertebrae posterior to the second lumbar are missing

short vertebral column ( J:13055 )

• in all animals, vertebral column is extremely short, ending in lumbar region

limbs/digits/tail

absent tail ( J:13055 )

• ~25% of offspring from heterozygous crosses are tailless

nervous system

spina bifida ( J:13055 )

• frequently mice show a lesion (ie hematoma) as symptom of spina bifida

renal/urinary system

abnormal renal/urinary system morphology ( J:13055 )

• bladder and urethra are present in some animals, and absent in others

persistent cloaca ( J:13055 )

• homozygotes all display a cloaca

absent kidney ( J:13055 )

• kidneys are entirely absent

absent urethra ( J:13055 )

• in some mice

absent urinary bladder ( J:13055 )

• in some mice

reproductive system

abnormal reproductive system morphology ( J:13055 )

• neonates either have no genital papilla or barely discernable ones, making male/female determinations not possible

persistent cloaca ( J:13055 )

• homozygotes all display a cloaca

digestive/alimentary system

anal atresia ( J:13055 )

• homozygotes always display an imperforate anus

persistent cloaca ( J:13055 )

• homozygotes all display a cloaca

cardiovascular system

hematoma ( J:13055 )

• associated with spina bifida

embryo

spina bifida ( J:13055 )

• frequently mice show a lesion (ie hematoma) as symptom of spina bifida

Genotype
MGI:2169403

hm3

• Allelic Composition: Etn2^Sd/Etn2^Sd
• Genetic Background: Not Specified

mortality/aging

neonatal lethality, complete penetrance ( J:30757 )

digestive/alimentary system

anal atresia ( J:30757 )

persistent cloaca ( J:30757 )

renal/urinary system

persistent cloaca ( J:30757 )

abnormal kidney development ( J:12723 )

• compared with in vitro culture of normal embryonic kidney rudiments, mutant kidney rudiments showed less differentiation capability with abnormalities of the ureter and reduced mesenchymal tubule formation

• reciprocal combinations of normal and mutant kidney mesenchyme grown in vitro established the potential of mutant embryonic kidney rudiment to differentiate ureteric branches and tubule formation

absent kidney ( J:30757 )

• associated with persistent cloaca and anal atresia

reproductive system

persistent cloaca ( J:30757 )

skeleton

short vertebral column ( J:30757 )

• ends within the lumbar region

• is discontinous in E11 embryos and ultimately disappears

limbs/digits/tail

absent tail ( J:30757 )

• degeneration of the tail starts at E9 accompanied by haemorrhages

Genotype
MGI:3714040

ht4

• Allelic Composition: Etn2^Sd/Etn2⁺
• Genetic Background: B6By.Cg-Etn2^Sd Mcoln3^Va-J Krt25^Re/J

limbs/digits/tail

decreased caudal vertebrae number ( J:105155 )

• truncation at the caudal vertebrae is observed

short tail ( J:105155 )

• heterozygotes have shorter tails

skeleton

abnormal intervertebral disk morphology ( J:105155 )

• intervertebral disks are occupied by peripheral fibers similar to those in annulus fibrosus, and no nucleus pulposus is found

abnormal nucleus pulposus morphology ( J:105155 )

• degeneration of nucleus is observed occasionally

abnormal vertebrae number ( J:105155 )

• variable number of vertebrae observed in heterozygotes

decreased caudal vertebrae number ( J:105155 )

• truncation at the caudal vertebrae is observed

short vertebral column ( J:105155 )

• vertebral column is truncated at ~sixth caudal vertebral body

Genotype
MGI:5508196

ht5

• Allelic Composition: Etn2^Sd/Etn2⁺
• Genetic Background: B6.Cg-Etn2^Sd

skeleton

abnormal nucleus pulposus morphology ( J:195133 )

intervertebral disk hypoplasia ( J:195133 )

abnormal sacrum morphology ( J:195133 )

• partial sacral defects that develop before birth and sacral hypoplasia

abnormal cervical vertebrae morphology ( J:195133 )

• hypoplasia of the dens of the cervical vertebral bodies

abnormal vertebral body morphology ( J:195133 )

• hypoplasia of the dens of the cervical vertebral bodies

axial skeleton hypoplasia ( J:195133 )

• less severe than in homozygotes

limbs/digits/tail

short tail ( J:195133 )

• less severe than in homozygotes

growth/size/body

decreased body length ( J:195133 )

digestive/alimentary system

anal stenosis ( J:195133 )

renal/urinary system

renal hypoplasia ( J:195133 )

Genotype
MGI:3714118

ht6

• Allelic Composition: Etn2^Sd/Etn2⁺
• Genetic Background: involves: Danforth's duplication stock

mortality/aging

preweaning lethality, incomplete penetrance ( J:13055 )

• nearly 70% of animals die prior to weaning age with heaviest mortality between 5 and 10 days of age

limbs/digits/tail

short tail ( J:13055 )

• some mice show either a short stump or a short tail ending in a contorted filamament, with total length not exceeding one half then length of a wild-type tail

• Background Sensitivity: tail length decreases with increased numbers of backcrosses to Bagg albino; absent tail is more frequent with increased backcrosses

absent tail ( J:13055 )

• some mice lack a tail completely or have a non-bondy filament of skin and connective tissue

• Background Sensitivity: tail length decreases with increased numbers of backcrosses to Bagg albino; absent tail is more frequent with increased backcrosses

skeleton

abnormal spine curvature ( J:13055 )

• mice occasionally have crooked spines

lordosis ( J:13055 )

• occasionally found

scoliosis ( J:13055 )

• occasionally found

abnormal sacral vertebrae morphology ( J:13055 )

• sacral region often appears shortened due to vertebral malformations

renal/urinary system

small kidney ( J:13055 )

• when present kidneys are small

absent kidney ( J:13055 )

• both kidneys may be missing

single kidney ( J:13055 )

• one kidney may be missing

Genotype
MGI:3714072

ht7

• Allelic Composition: Etn2^Sd/Etn2⁺
• Genetic Background: involves: NMRI

skeleton

abnormal vertebrae morphology ( J:49126 )

• mice show obvious defects up to the lower lumbar levels at E16.5

abnormal caudal vertebrae morphology ( J:49126 )

• vertebrae at caudal level are malformed

absent caudal vertebrae ( J:49126 )

• most caudal vertebrae are completely deleted

abnormal cervical axis morphology ( J:49126 )

• vertebrae lack ossification center in centrum of the axis

abnormal odontoid process morphology ( J:49126 )

• severely reduced or missing dens axis (cranial protrusion of second cervical vertebra) at E16.5

abnormal lumbar vertebrae morphology ( J:49126 )

abnormal sacral vertebrae morphology ( J:49126 )

• vertebrae are severely malformed in animals at E16.5

absent sacral vertebrae ( J:49126 )

• sacral level vertebrae may be partially or totally deleted ventrally

abnormal vertebral body morphology ( J:49126 )

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:49126 )

• vertebrae at caudal level are malformed

absent caudal vertebrae ( J:49126 )

• most caudal vertebrae are completely deleted

short tail ( J:49126 )

• tail lengths fall into three groups: group 1 animals have no tails or short, filamentous tail remnants, group 2 animals have tails between 1 and 2 cm in length, and group 3 animals have tails longer than 2 cm

• 26%, 48%, and 26% of heterozygotes with mutations in cis fall into groups1, 2, and 3 respectively

Genotype
MGI:2169402

ht8

• Allelic Composition: Etn2^Sd/Etn2⁺
• Genetic Background: Not Specified

skeleton

abnormal vertebrae morphology ( J:30757 )

• all vertebrae are reduced in dorso-ventral direction

abnormal thoracic vertebrae morphology ( J:30757 )

• the first few vertebrae are markedly reduced in dorso-ventral direction

abnormal cervical vertebrae morphology ( J:30757 )

• are markedly reduced in dorso-ventral direction

abnormal arcus anterior morphology ( J:30757 )

• the arcus anterior is wider than normal

absent odontoid process ( J:30757 )

• the process is missing but side-to-side articulation of C1 and C2 exists because the arcus anterior is wider than normal

abnormal sacral vertebrae morphology ( J:30757 )

absent sacral vertebrae ( J:30757 )

• third and fourth vertebrae are missing

limbs/digits/tail

short tail ( J:30757 )

• to a variable extent

• cellular degeneration begins at E10, usually accompanied by haemorrhages

renal/urinary system

abnormal kidney morphology ( J:30757 )

• may be reduced in size or absent

absent kidney ( J:30757 )

Genotype
MGI:3714070

cx9

• Allelic Composition: Etl4^{Gt(6LSN)6029Gos}/Etl4⁺; Etn2^Sd/Etn2⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI

skeleton

skeleton phenotype ( J:49126 )

N • in mutants carrying mutations in cis, ventral ossification center in the axis is normal or only slightly reduced, and dens axis is partially or completely restored compared to mice with mutantions in trans

abnormal vertebral column morphology ( J:49126 )

• at E16.5, vertebral columns are severely malformed or completely deleted caudal to the sacral region in mutants with alleles in trans

abnormal odontoid process morphology ( J:49126 )

• in most cases, no dens axis is present (cranial protrusion of second cervical vertebra) at E16.5 in mutants with alleles in trans

abnormal lumbar vertebrae morphology ( J:49126 )

• mice show obvious defects at the upper lumbar levels by E16.5 in mutants with alleles in trans

abnormal sacral vertebrae morphology ( J:49126 )

• some mice with the two mutations in cis show mild defects in sacral vertebrae, while remainder show defects exclusively in the caudal end of the vertebral column

abnormal vertebral body morphology ( J:49126 )

• at upper lumbar level, vertebral bodies are split ventrally; deletions or malformations in the dorsal portion of the vertebrae are present in lower lumbar level in mutants with alleles in trans

• dorsoventral diameter of the vertebral body of the axis is further reduced

limbs/digits/tail

short tail ( J:49126 )

• tails of compound heterozygotes carrying the mutations in trans are shorter than Sd heterozygotes, whereas compound mutants carrying the mutations in cis have a similar tail length phenotype to Sd heterozygotes

• tail lengths fall into three groups: group 1 animals have no tails or short, filamentous tail remnants, group 2 animals have tails between 1 and 2 cm in length, and group 3 animals have tails longer than 2 cm

• 4%, 11%, and 85% of compound heterozygotes with mutations in cis fall into groups1, 2, and 3 respectively, while percentages of mutants with alleles in trans are 71, 26, and 3% respectively in groups 1, 2, and 3; thus tail length is increased when alleles are in cis and length is decreased when mutations are carried in trans

Genotype
MGI:3714071

cx10

• Allelic Composition: Etl4^{Gt(6LSN)6029Gos}/Etl4^{Gt(6LSN)6029Gos}; Etn2^Sd/Etn2⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI

mortality/aging

postnatal lethality, incomplete penetrance ( J:49126 )

• high rate (around 50%) of postnatal lethality is exhibited

skeleton

abnormal vertebral column morphology ( J:49126 )

• defects are similar or slightly worsened in extent, compared to compound homozygotes with the mutations in trans

short vertebral column ( J:49126 )

• defects are similar or slightly worsened in extent, compared to compound homozygotes with the mutations in trans

limbs/digits/tail

short tail ( J:49126 )

• mutants show tail length distribution similar to compound heterozygotes having mutations in trans

reproductive system

persistent cloaca ( J:49126 )

male infertility ( J:49126 )

♂ • 4 of 6 males tested were infertile

renal/urinary system

abnormal renal/urinary system morphology ( J:49126 )

• mice show various urogenital system abnormalities

persistent cloaca ( J:49126 )

renal hypoplasia ( J:49126 )

• mice have hypotrophic kidneys

digestive/alimentary system

persistent cloaca ( J:49126 )

Genotype
MGI:5508345

cx11

• Allelic Composition: Etn2^Sd/Etn2^Sd; Ptf1a/Ptf1aos^{tm3(CAG-Ptf1aos)Kymm}/Ptf1a/Ptf1aos^{tm3(CAG-Ptf1aos)Kymm}
• Genetic Background: involves: C57BL/6

normal phenotype

no abnormal phenotype detected ( J:195133 )

Genotype
MGI:5508344

cx12

• Allelic Composition: Etn2^Sd/Etn2^Sd; Ptf1a/Ptf1aos^{tm3(CAG-Ptf1aos)Kymm}/Ptf1a/Ptf1aos^{tm3(CAG-Ptf1aos)Kymm}
• Genetic Background: involves: C57BL/6

normal phenotype

no abnormal phenotype detected ( J:195133 )

Genotype
MGI:5508343

cx13

• Allelic Composition: Etn2^Sd/Etn2⁺; Ptf1a/Ptf1aos^{tm3(CAG-Ptf1aos)Kymm}/Ptf1aos⁺
• Genetic Background: involves: C57BL/6

normal phenotype

no abnormal phenotype detected ( J:195133 )

• when alleles are in cis

Genotype
MGI:5508335

cx14

• Allelic Composition: Etn2^Sd/Etn2⁺; Ptf1a/Ptf1aos^tm1Kymm/Ptf1a⁺
• Genetic Background: involves: C57BL/6

endocrine/exocrine glands

absent pancreas ( J:195133 )

• when the alleles are in cis

limbs/digits/tail

abnormal tail morphology ( J:195133 )

• when the alleles are in trans, authors state that mice exhibit a similar phenotype to Etn2^Sd heterozygotes

• however, when the alleles are in cis embryos exhibited no abnormalities in vertebral

skeleton

abnormal skeleton morphology ( J:195133 )

• when the alleles are in trans, authors state that mice exhibit a similar phenotype to Etn2^Sd heterozygotes

• however, when the alleles are in cis embryos exhibited no abnormalities in vertebral

Genotype
MGI:5508336

cx15

• Allelic Composition: Etn2^Sd/Etn2⁺; Ptf1a/Ptf1aos^tm1Kymm/Ptf1aos⁺
• Genetic Background: involves: C57BL/6

endocrine/exocrine glands

absent pancreas ( J:195133 )

• when the alleles are in cis

limbs/digits/tail

abnormal tail morphology ( J:195133 )

• when the alleles are in trans, authors state that mice exhibit a similar phenotype to Etn2^Sd heterozygotes

• however, when the alleles are in cis embryos exhibited no abnormalities in vertebral

skeleton

abnormal skeleton morphology ( J:195133 )

• when the alleles are in trans, authors state that mice exhibit a similar phenotype to Etn2^Sd heterozygotes

• however, when the alleles are in cis embryos exhibited no abnormalities in vertebral

Genotype
MGI:5508338

cx16

• Allelic Composition: Etn2^Sd/Etn2⁺; Ptf1a/Ptf1aos^{tm2(Ptf1a)Kymm}/Ptf1aos⁺
• Genetic Background: involves: C57BL/6

limbs/digits/tail

short tail ( J:195133 )

skeleton

short vertebral column ( J:195133 )

• truncated at the eighth cervical vertebrae

Genotype
MGI:5508340

cx17

• Allelic Composition: Etn2^Sd/Etn2^Sd; Ptf1a/Ptf1aos^{tm2(Ptf1a)Kymm}/Ptf1a/Ptf1aos^{tm2(Ptf1a)Kymm}
• Genetic Background: involves: C57BL/6

digestive/alimentary system

abnormal anus morphology ( J:195133 )

• anorectal malformation as in Etn2^Sd homozygotes

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:195133 )

N • normal pancreas

growth/size/body

decreased body length ( J:195133 )

• in neonates

limbs/digits/tail

absent tail ( J:195133 )

• in neonates

skeleton

abnormal nucleus pulposus morphology ( J:195133 )

• of intervertebral discs as in Etn2^Sd homozygotes

short vertebral column ( J:195133 )

• truncated at the tenth thoracic vertebrae

Genotype
MGI:5508342

cx18

• Allelic Composition: Etn2^Sd/Etn2⁺; Ptf1a/Ptf1aos^{tm3(CAG-Ptf1aos)Kymm}/Ptf1a⁺
• Genetic Background: involves: C57BL/6

normal phenotype

no abnormal phenotype detected ( J:195133 )

• when alleles are in cis

Genotype
MGI:5508341

cx19

• Allelic Composition: Etn2^Sd/Etn2^Sd; Ptf1a/Ptf1aos^{tm2(Ptf1a)Kymm}/Ptf1a/Ptf1aos^{tm2(Ptf1a)Kymm}
• Genetic Background: involves: C57BL/6

digestive/alimentary system

abnormal anus morphology ( J:195133 )

• anorectal malformation as in Etn2^Sd homozygotes

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:195133 )

N • normal pancreas

growth/size/body

decreased body length ( J:195133 )

• in neonates

limbs/digits/tail

absent tail ( J:195133 )

• in neonates

skeleton

abnormal nucleus pulposus morphology ( J:195133 )

• of intervertebral discs as in Etn2^Sd homozygotes

short vertebral column ( J:195133 )

• truncated at the tenth thoracic vertebrae

Genotype
MGI:5508353

cx20

• Allelic Composition: Etn2^Sd/Etn2⁺; Ptf1a/Ptf1aos^{tm2(Ptf1a)Kymm}/Ptf1a⁺
• Genetic Background: involves: C57BL/6

limbs/digits/tail

short tail ( J:195133 )

skeleton

short vertebral column ( J:195133 )

• truncated at the eighth cervical vertebrae

Genotype
MGI:3714045

cx21

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4^{Gt(pU8)80211Imeg}; Etn2^Sd/Etn2⁺
• Genetic Background: involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va

mortality/aging

postnatal lethality ( J:105155 )

• mice die within 48 hours of birth

limbs/digits/tail

short tail ( J:105155 )

• neonates have shorter tails than compound heterozygotes

skeleton

short vertebral column ( J:105155 )

• vertebral columns are truncated at ~fourth sacral vertebral body

Genotype
MGI:3714044

cx22

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4⁺; Etn2^Sd/Etn2⁺
• Genetic Background: involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va

mortality/aging

postnatal lethality ( J:105155 )

• all mice die within 2 weeks of birth

embryo

abnormal notochord morphology ( J:105155 )

• by E13.5 notochord is fragmented in cis and trans compound heterozygotes

small notochord ( J:105155 )

• notochords of cis and trans compound heterozygotes are thin at E9.5

limbs/digits/tail

short tail ( J:105155 )

• both cis and trans compound heterozygotes have shorter tails

skeleton

absent nucleus pulposus ( J:105155 )

• nucleus pulposus is completely absent and is replaced by peripheral fibers similar to those in annulus fibrosus in all intervertebral disks

short vertebral column ( J:105155 )

• vertebral column is truncated at the second and third caudal vertebral body in trans and cis compound mutants